GM20732

GM20732 LCL from B-Lymphocyte

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Affected:

No

Sex:

Male

Age:

29 YR (At Sampling)

Overview

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

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

Characterizations

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.