ID   GM00743
AC   CVCL_BW98
SY   GM-743; GM0743
DR   CLO; CLO_0028819
DR   Coriell; GM00743
DR   Wikidata; Q54836436
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2001457;
RX   PubMed=3840329;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 8896; PGK1; Simple; p.Leu88Pro (c.263T>C); ClinVar=VCV000009946; Zygosity=Hemizygous; Note=PGK-Matsue (PubMed=2001457).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C126738; Phosphoglycerate kinase 1 deficiency
DI   ORDO; Orphanet_713; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 9
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=2001457; DOI=10.1182/blood.V77.6.1348.1348;
RA   Maeda M., Yoshida A.;
RT   "Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue)
RT   associated with hemolytic anemia: Leu-->Pro substitution caused by
RT   T/A-->C/G transition in exon 3.";
RL   Blood 77:1348-1352(1991).
//
RX   PubMed=3840329;
RA   Tani K., Takizawa T., Yoshida A.;
RT   "Normal mRNA content in a phosphoglycerate kinase variant with severe
RT   enzyme deficiency.";
RL   Am. J. Hum. Genet. 37:931-937(1985).
//