| Cell line name |
GM00743 |
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| Synonyms |
GM-743; GM0743 |
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| Accession |
CVCL_BW98 |
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| Resource Identification Initiative |
To cite this cell line use: GM00743 (RRID:CVCL_BW98) |
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| Comments |
Population: Japanese.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; 8896; PGK1; Simple; p.Leu88Pro (c.263T>C); ClinVar=VCV000009946; Zygosity=Hemizygous; Note=PGK-Matsue (PubMed=2001457).
|
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| Disease |
Phosphoglycerate kinase 1 deficiency (NCIt: C126738)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORDO: Orphanet_713) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
4Y |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) PubMed=3840329
Tani K., Takizawa T., Yoshida A.
Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency.
Am. J. Hum. Genet. 37:931-937(1985) PubMed=2001457; DOI=10.1182/blood.V77.6.1348.1348
Maeda M., Yoshida A.
Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu-->Pro substitution caused by T/A-->C/G transition in exon 3.
Blood 77:1348-1352(1991) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00743
|
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| Cell line databases/resources |
CLO; CLO_0028819
|
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| Encyclopedic resources |
Wikidata; Q54836436
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| Entry history |
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| Entry creation | 13-Jul-2016 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 9 |
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