GM03798
LCL from B-Lymphocyte
Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Apparently Healthy Collection |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Karyotypic analysis and Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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Remarks |
46,XY; 2% of cells show random chromosome loss; brother of GM03797 |
Monternier PA, Singh J, Parasar P, Theurey P, DeWitt S, Jacques V, Klett E, Kaur N, Nagaraja TN, Moller DE, Hallakou-Bozec S, Therapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy Journal of inherited metabolic disease: 2022 |
PubMed ID: 35510808 |
|
Zheng F, Chen Z, Li J, Wu R, Zhang B, Nie G, Xie Z, Zhang H, A Highly Sensitive CRISPR-Empowered Surface Plasmon Resonance Sensor for Diagnosis of Inherited Diseases with Femtomolar-Level Real-Time Quantification Advanced science (Weinheim, Baden-Wurttemberg, Germany)9:e2105231 2022 |
PubMed ID: 35343100 |
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Aprigliano R, Aksu ME, Bradamante S, Mihaljevic B, Wang W, Rian K, Montaldo NP, Grooms KM, Fordyce Martin SL, Bordin DL, Bosshard M, Peng Y, Alexov E, Skinner C, Liabakk NB, Sullivan GJ, Bjørås M, Schwartz CE, van Loon B, Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities Cell reports Medicine2:100240 2020 |
PubMed ID: 33948573 |
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Balderston S, Taulbee JJ, Celaya E, Fung K, Jiao A, Smith K, Hajian R, Gasiunas G, Kutanovas S, Kim D, Parkinson J, Dickerson K, Ripoll JJ, Peytavi R, Lu HW, Barron F, Goldsmith BR, Collins PG, Conboy IM, Siksnys V, Aran K, Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering2:100240 2020 |
PubMed ID: 33820980 |
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Holt CL, Stephens KM, Walichiewicz P, Fleming KD, Forouzmand E, Wu SF, Human Mitochondrial Control Region and mtGenome: Design and Forensic Validation of NGS Multiplexes, Sequencing and Analytical Software Genes12:100240 2020 |
PubMed ID: 33921728 |
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Hajian R, Balderston S, Tran T, deBoer T, Etienne J, Sandhu M, Wauford NA, Chung JY, Nokes J, Athaiya M, Paredes J, Peytavi R, Goldsmith B, Murthy N, Conboy IM, Aran K, Detection of unamplified target genes via CRISPR-Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering3:427-437 2018 |
PubMed ID: 31097816 |
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Mejia EM, Zegallai H, Bouchard ED, Banerji V, Ravandi A, Hatch GM, Expression of human monolysocardiolipin acyltransferase-1 improves mitochondrial function in Barth Syndrome lymphoblasts The Journal of biological chemistry3:427-437 2018 |
PubMed ID: 29563154 |
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Mendez P, Taron M, Moran T, Fernandez MA, Requena G, Rosell R, A modified host-cell reactivation assay to quantify DNA repair capacity in cryopreserved peripheral lymphocytes DNA repair10:603-10 2010 |
PubMed ID: 21546323 |
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Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF, Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers Molecular genetics and metabolism94:491-7 2008 |
PubMed ID: 18485778 |
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Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007 |
PubMed ID: 17360557 |
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Ho CC, Siu WY, Lau A, Chan WM, Arooz T, Poon RY, Stalled replication induces p53 accumulation through distinct mechanisms from DNA damage checkpoint pathways Cancer research66:2233-41 2006 |
PubMed ID: 16489026 |
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Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005 |
PubMed ID: 16260726 |
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Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
PubMed ID: 16203772 |
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Ng CP, Lee HC, Ho CW, Arooz T, Siu WY, Lau A, Poon RY, Differential mode of regulation of the checkpoint kinases CHK1 and CHK2 by their regulatory domains. J Biol Chem279(10):8808-19 2004 |
PubMed ID: 14681223 |
|
Siu WY, Lau A, Arooz T, Chow JP, Ho HT, Poon RY, Topoisomerase poisons differentially activate DNA damage checkpoints through ataxia-telangiectasia mutated-dependent and -independent mechanisms. Mol Cancer Ther3(5):621-32 2004 |
PubMed ID: 15141020 |
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Chow JP, Siu WY, Fung TK, Chan WM, Lau A, Arooz T, Ng CP, Yamashita K, Poon RY, DNA damage during the spindle-assembly checkpoint degrades CDC25A, inhibits cyclin-CDC2 complexes, and reverses cells to interphase. Mol Biol Cell14(10):3989-4002 2003 |
PubMed ID: 14517313 |
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Hancock DK, Schwarz FP, Song F, Wong LJ, Levin BC, Design and use of a peptide nucleic acid for detection of the heteroplasmic
low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like
episodes (MELAS) mutation in human mitochondrial DNA. Clin Chem48(12):2155-63 2002 |
PubMed ID: 12446471 |
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Levin BC, Cheng H, Reeder DJ, A human mitochondrial DNA standard reference material for quality control in
forensic identification, medical diagnosis, and mutation detection. Genomics55(2):135-46 1999 |
PubMed ID: 9933560 |
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Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999 |
PubMed ID: 10428067 |
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Petrovic N, Comi A, Ettinger MJ, Copper incorporation into superoxide dismutase in Menkes lymphoblasts. J Biol Chem271:28335-40 1996 |
PubMed ID: 8910456 |
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Petrovic N, Comi A, Ettinger MJ, Identification of an apo-superoxide dismutase (Cu,Zn) pool in human lymphoblasts. J Biol Chem271:28331-4 1996 |
PubMed ID: 8910455 |
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Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989 |
PubMed ID: 2568752 |
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Tilley WD, Marcelli M, Wilson JD, McPhaul MJ, Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci U S A86:327-31 1989 |
PubMed ID: 2911578 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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