GM20732
LCL from B-Lymphocyte
Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Hereditary Cancers |
Class |
Syndromes with Increased Chromosome Breakage |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Gene |
FANCC |
Chromosomal Location |
9q22.3 |
Allelic Variant 1 |
227645.0003; FANCONI ANEMIA, COMPLEMENTATION GROUP C |
Identified Mutation |
IVS,A>T,+4; Using reverse transcription PCR and chemical mismatch cleavage (CMC), Whitney et al. (Nat Genet 4:202-205, 1993) demonstrated homozygosity for an identical splice mutation in 2 Ashkenazi Jewish patients with Fanconi anemia. Three additional patients bearing this allele were found through screening 21 other families. A single base change in the fourth intronic base changed the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4. They referred to the allele as IVS4+4, A-to-T. |
Remarks |
Donor subject has one allele with a splice site mutation [IVS4+4A>T] in the FANCC gene in which a single base change in the fourth intronic base changes the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4 |
Split Ratio |
1:2 |
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 |
Supplement |
- |
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