GM28214
Fibroblast from Skin, Skin
Description:
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Skin
|
Race
|
Asian
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
South Asian, Indian
|
Country of Origin
|
USA
|
Family Member
|
3
|
Family History
|
N
|
Relation to Proband
|
father
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.64 |
Passage Frozen |
2 |
|
Gene |
CFTR |
Chromosomal Location |
7q31.2 |
Allelic Variant 1 |
R75X; CYSTIC FIBROSIS |
Identified Mutation |
ARG75TER |
Remarks |
Unaffected; affected child is GM27448 (fibro) and GM27857 (stem cell); whole genome sequencing of the child revealed an X-linked hemizygous mutation in SLC6A8 CHRX:152959835-152960127, novel variant for which this father is negative; carrier of a pathogenic heterozygous variant in exon 3 of the CFTR gene (NM_000492): c.223C>T (p.R75X), rs121908749; the following are variants of uncertain significance (VUS) in the child for which the father is heterozygous: C3ORF20 Chr3:14798910 novel variant; GNL2 Chr1:38038959 novel variant; KRBA1 Chr7:149421739, rs376784656; SSPO Chr7:149513111, rs200844215; TAF5 Chr10:105139477, rs1424510902; ZNF746 Chr7:149171484. |
Cumulative PDL at Freeze |
5.64 |
Passage Frozen |
2 |
Split Ratio |
1:6 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|