GM21645
Fibroblast from Skin, Unspecified
Description:
CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HANSTER, 1; ERCC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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White
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Ethnicity
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ITALIAN
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ERCC1 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
126380.0002; CEREBROOCULOFACIOSKELETAL SYNDROME 4 |
| Identified Mutation |
PHE231LEU; In an infant with a severe and developmental disorder compatible with the diagnosis of cerebrooculofacioskeletal syndrome (COFS4; 610758), Jaspers et al. (Am J Hum Genet 80:457-466,2007) found compound heterozygosity for 2 mutations in the ERCC1 gene: a C-to-T transition predicted to convert codon gln158 into an amber translational stop signal (CAG to TAG; Q158X), inherited from the mother; inherited from the father, a C-to-G transversion which was predicted to change phe231 to leucine (F231L). The allele derived from the mother encoded a truncated polypeptide that lacked the entire C-terminal domain, which is essential for interaction with XPF. Heterodimerization of ERCC1-XPF is required for stability of the complex and for its endonuclease activity. Therefore, the Q158X allele was expected to be functionally null. |
| Remarks |
Clinically normal father of an affected son; donor subject is heterozygous for a C>G transversion at nucleotide 839 in exon 7 of the ERCC1 gene (839C>G) resulting in the subsitution of leucine for phenylalanine at codon 231 [Phe231Leu (F231L)]; proband is not in Repository |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Ham's F10 with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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