GM28214
Fibroblast from Skin, Skin
Description:
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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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, Skin
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Race
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Asian
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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South Asian, Indian
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Country of Origin
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USA
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Family Member
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3
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Family History
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N
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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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| PDL at Freeze |
5.64 |
| Passage Frozen |
2 |
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| 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. |
| Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA, Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts PloS one20:e0319350 2025 |
| PubMed ID: 40338959 |
| 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 |
- |
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