ID   GM01188
AC   CVCL_4J29
SY   GM-1188
DR   CLO; CLO_0030265
DR   BioSample; SAMN00803694
DR   Coriell; GM01188
DR   Wikidata; Q54836693
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7803800;
CC   Population: Caucasian; Sardinian.
CC   Karyotypic information: 46,XY,inv(9) (Coriell=GM01188).
CC   Sequence variation: Mutation; HGNC; 4057; G6PD; Simple; p.Asp282His (c.844G>C); ClinVar=VCV000010372; Zygosity=Hemizygous (PubMed=7803800).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98933; Glucose-6-phosphate dehydrogenase deficiency
DI   ORDO; Orphanet_466026; Class I glucose-6-phosphate dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 12
//
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=7803800; DOI=10.1182/blood.V85.1.257.bloodjournal851257;
RA   Xu W.-M., Westwood B., Bartsocas C.S., Malcorra-Azpiazu J.J., Indrak K.,
RA   Beutler E.;
RT   "Glucose-6 phosphate dehydrogenase mutations and haplotypes in various
RT   ethnic groups.";
RL   Blood 85:257-263(1995).
//