NA01188
DNA from Fibroblast
Description:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY,inv(9)(p11q13),add(11)(q25)[7]/46,XY,inv(9)(p11q13)[13]
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
G6PD |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
305900.0010; G6PD SEATTLE-LIKE |
| Identified Mutation |
ASP282HIS; G6PD Seattle-like, which produces a relatively mild phenotype, has a substitution of histidine for aspartic acid at amino acid 282, resulting from a GAT-to CAT change in exon 8. The G-to-C transition is at nucleotide 844. |
| Remarks |
46,XY,inv(9); G6PD(Seattle), Xg(a) antigen positive; Sardinian; 24% of cells have marker chromosome 11q+ at passage 5; G6PD mutation is 844G>C (Asp282His {D282H}) |
| Xu, W., Westwood, B., Bartsocas, C.S., Malcorra-Azpiazu, J.J., Indrak, K., and Beutler, E., Glucose-6 Phosphate Dehydrogenase Mutations and Haplotypes in Various Ethnic Groups Blood85(1):257-263 1995 |
| PubMed ID: 7803800 |
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| 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 |
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