ID   GM01675
AC   CVCL_U387
SY   GM-1675; GM 01675; GM1675
DR   CLO; CLO_0030949
DR   BioSample; SAMN00807063
DR   Coriell; GM01675
DR   Wikidata; Q54837008
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1570834;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4367; GM2A; Simple; p.Cys138Arg (c.412T>C); ClinVar=VCV000000390; Zygosity=Homozygous (PubMed=1570834).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C133084; GM2-gangliosidosis, AB variant
DI   ORDO; Orphanet_309246; GM2 gangliosidosis, AB variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 16
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=1570834; PMCID=PMC1682593;
RA   Xie B., Wang W., Mahuran D.J.;
RT   "A Cys138-to-Arg substitution in the GM2 activator protein is
RT   associated with the AB variant form of GM2 gangliosidosis.";
RL   Am. J. Hum. Genet. 50:1046-1052(1992).
//