Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
X Chromosome Markers |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
3
|
Relation to Proband
|
father
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
ISCN
|
46,XY
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Remarks |
46,XY; normal RBC G6PD level, Xg(a) antigen positive; Sardinian; 0.53 units G6PD in fibroblasts; slow growing culture; negative for G6PD 563T(Ser188Phe), 844C(Asp282His), 202A(Val68Met), and 376G(Asn126Asp) mutations |
Kennedy A, Frank RN, Varma SD, Galactitol accumulation by glucose-6-phosphate deficient fibroblasts: a cellular model for resistance to the complications of diabetes mellitus. Life Sci33:1277-83 1983 |
PubMed ID: 6412013 |
Passage Frozen |
4 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|