GM09503
Fibroblast from Skin, Abdomen
Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
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Biopsy Source
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Abdomen
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Abdomen
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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47,XY,+20[2]/46,XY[48]
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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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| Passage Frozen |
3 |
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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 |
Skin biopsy (lower left abdomen); 46,XY; 6% of cells show random chromosome loss |
| Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2022 |
| PubMed ID: 36899894 |
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| Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Undiagnosed Diseases Network E, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV, Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment NPJ genomic medicine8:4 2022 |
| PubMed ID: 36765070 |
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| Come JH, Senter TJ, Clark MP, Court JJ, Gale-Day Z, Gu W, Krueger E, Liang J, Morris M, Nanthakumar S, O'Dowd H, Maltais F, Iyer G, Andreassi J, Boucher C, Considine T, Moody CS, Taylor W, Mohanty AK, Huang Y, Zuccola H, Coll J, Bonanno KC, Gagnon KJ, Gan L, Lu F, Gao H, Chakilam A, Engtrakul J, Song B, Crawford D, Doyle E, Kramer T, Vought B, Phillips J, Kemper R, Sanders M, Swett R, Furey B, Winquist R, Bunnage ME, Jackson KL, Charifson PS, Magavi SS, Discovery and Optimization of Pyrazole Amides as Inhibitors of ELOVL1 Journal of medicinal chemistry64:17753-17776 2021 |
| PubMed ID: 34748351 |
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| Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG) D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH, A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction American journal of human genetics108:1040-1052 2021 |
| PubMed ID: 33964207 |
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| Lee Y, Shivashankar GV, Analysis of transcriptional modules during human fibroblast ageing Scientific reports10:19086 2020 |
| PubMed ID: 33154459 |
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| Li Y, Zhang Y, Hu Q, Egranov SD, Xing Z, Zhang Z, Liang K, Ye Y, Pan Y, Chatterjee SS, Mistretta B, Nguyen TK, Hawke DH, Gunaratne PH, Hung MC, Han L, Yang L, Lin C, Functional significance of gain-of-function H19 lncRNA in skeletal muscle differentiation and anti-obesity effects Genome medicine13:137 2020 |
| PubMed ID: 34454586 |
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| Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Undiagnosed Diseases Network DR, Gahl WA, Bamshad MJ, Nickerson DA, University of Washington Centre for Mendelian Genomics DA, Malicdan MCV, Freeze HH, Mutations in GET4 disrupt the transmembrane domain recognition complex pathway Journal of inherited metabolic disease13:137 2020 |
| PubMed ID: 32395830 |
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| Zhang Y, Li Y, Hu Q, Xi Y, Xing Z, Zhang Z, Huang L, Wu J, Liang K, Nguyen TK, Egranov SD, Sun C, Zhao Z, Hawke DH, Li J, Sun D, Kim JJ, Zhang P, Cheng J, Farida A, Hung MC, Han L, Darabi R, Lin C, Yang L, The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin Nature cell biology22:1332-1345 2020 |
| PubMed ID: 33106653 |
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| MacLean GE, Argyriou C, Di Pietro E, Sun X, Birjandian S, Saberian P, Hacia JG, Braverman NE, Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids Journal of cellular biochemistry22:1332-1345 2018 |
| PubMed ID: 30362618 |
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| Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Nucleic acids research40:9661-74 2012 |
| PubMed ID: 22904069 |
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| Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E, Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type Biochimica et biophysica acta1802:959-67 2010 |
| PubMed ID: 20696242 |
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| Lee DF, Drouin R, Pitsikas P, Rainbow AJ, Detection of an involvement of the human mismatch repair genes hMLH1 and hMSH2 in nucleotide excision repair is dependent on UVC fluence to cells. Cancer Res64(11):3865-70 2004 |
| PubMed ID: 15172995 |
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| Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Gueret M, Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. Hum Mol Genet6:1427-34 1997 |
| PubMed ID: 9285778 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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