GM28213
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
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Romanian
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.89 |
Passage Frozen |
3 |
|
Gene |
SLC6A8 |
Chromosomal Location |
Xq28 |
Allelic Variant 1 |
; CEREBRAL CREATINE DEFICIENCY SYNDROME 1 |
Identified Mutation |
DEL EX10-11 |
Remarks |
Unaffected carrier; affected child is GM27448 (fibro) and GM27857 (stem cell); whole genome sequencing (WES) revealed an X-linked hemizygous mutation in SLC6A8 ChrX:152959835-152960127 novel variant in child and for which mother is likely mosaic; the following are variants of uncertain significance (VUS) in the child for which the mother is heterozygous: C3ORF20 Chr3:14768516, rs13939744; GNL2 Chr1:38034840, rs371807683; KRBA1 Chr7:149419915; SSPO Chr7:149528253, rs202079585; TAF5 Chr10:105139477, rs1424510902 |
Cumulative PDL at Freeze |
6.89 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
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 |
- |
|
|