GM28473
Fibroblast from Skin, Skin
Description:
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D
ENOYL-COA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1
|
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
|
|
Subject Type
|
trio
|
|
Ethnicity
|
Syrian Jew
|
|
Country of Origin
|
MEXICO
|
|
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 |
8.55 |
| Passage Frozen |
3 |
| |
| Gene |
ECHS1 |
| Chromosomal Location |
10q26.3 |
| Allelic Variant 1 |
; Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| Identified Mutation |
c.673T (p.Cys225Arg) |
| Remarks |
Unaffected carrier; clinically affected daughter is GM28472 (fibro). |
| Cumulative PDL at Freeze |
8.55 |
| 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 |
- |
|
|