GM16396
Fibroblast from Skin, Unspecified
Description:
GLUTARICACIDEMIA I
GLUTARYL-COA DEHYDROGENASE; GCDH
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.18 |
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
Y74C; GLUTARICACIDEMIA I |
| Identified Mutation |
TYR74CYS |
| |
| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
; GLUTARICACIDEMIA I |
| Identified Mutation |
198delC |
| Remarks |
Clinically affected; donor subject is a compound heyerozygote: one allele has an A>G change at nucleotide 221 in exon 3 of the GCDH gene (c.221A>G) resulting in the substitution of cysteine for tyrosine at codon 74 [Tyr74Cys (Y74C)]; the second allele has a 1 bp deletion at nucleotide 198 in exon 3 (c.198delC) |
| Passage Frozen |
11 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|