Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Molecular characterization after 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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| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
46,XX; double heterozygote G6PD(Seattle) Xg(a)+/ G6PD(B) Xg(a)-; Sardinian; G6PD is negative for 563T(Ser188Phe)S188F, 844C(Asp282His)D282H, 202A(Val68Met) V68M, and 376G(Asn126Asp)N126D mutations |
| Siniscalco M, Filippi G, Latte B, Piomelli S, Rattazzi M, Gavin J, Sanger R, Race RR, Failure to detect linkage between Xg and other X-borne loci in Sardinians. Ann Hum Genet29:231-52 1966 |
| PubMed ID: 5297079 |
| Passage Frozen |
5 |
| 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 |
- |
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