GM16749
LCL from B-Lymphocyte
Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Syndromes with Increased Chromosome Breakage |
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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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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/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 |
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| Remarks |
Clinically affected; complementation group A; fusion donor cell line that is ouabain-resistant and 6-thioguanine-resistant (hprt-); referred to as line HSC72OT in several publications (i.e. Joenje, et al - PMID: 7662964); see GM13022 (HSC72) for wildtype line from same subject. |
| Katari S, Aarabi M, Kintigh A, Mann S, Yatsenko SA, Sanfilippo JS, Zeleznik AJ, Rajkovic A, Chromosomal instability in women with primary ovarian insufficiency Human reproduction (Oxford, England): 2017 |
| PubMed ID: 29425284 |
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| Kumaresan KR, Lambert MW, Fanconi anemia, complementation group A, cells are defective in ability to
produce incisions at sites of psoralen interstrand cross-links. Carcinogenesis21(4):741-51 2000 |
| PubMed ID: 10753211 |
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| Joenje H, Lo Ten Foe J R, Oostra A B, van Berkel C G M, Rooimans M A, Schroeder-Kurth T, Wegner R-D, Gille J J P, Buchwald M, and Arwert F, Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype Blood86(6):2156-2160 1995 |
| PubMed ID: 10753211 |
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| Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T, Wegner RD, Gille JJ, Buchwald M, Arwert F, Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype Blood86:2156-60 1995 |
| PubMed ID: 7662964 |
| Split Ratio |
1:5 |
| 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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