GM14926
LCL from B-Lymphocyte
Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Apparently Healthy Collection Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Alternate IDs |
GM18076 [APPARENTLY HEALTHY INDIVIDUAL] |
Biopsy Source
|
Peripheral vein
|
Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Apparently Healthy individual with a body mass index (BMI) within normal range; non-obese control; body mass index = 23; 193 pounds |
Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L, Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide Scientific reports9:14568 2019 |
PubMed ID: 31601825 |
|
Kurosaki T, Imamachi N, Pröschel C, Mitsutomi S, Nagao R, Akimitsu N, Maquat LE, Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay Nature cell biology23:40-48 2019 |
PubMed ID: 33420492 |
|
Rose S, Frye RE, Slattery J, Wynne R, Tippett M, Melnyk S, James SJ, Oxidative stress induces mitochondrial dysfunction in a subset of autistic lymphoblastoid cell lines Translational psychiatry4:e377 2013 |
PubMed ID: 24690598 |
|
James SJ1, Rose S, Melnyk S, Jernigan S, Blossom S, Pavliv O, Gaylor DW., Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB J23(8):2374-83 2009 |
PubMed ID: 19307255 |
|
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 |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
- |
|
|