ID   GM02439
AC   CVCL_W149
SY   WG0406; WG406
DR   CLO; CLO_0033291
DR   Coriell; GM02439
DR   Wikidata; Q54837491
RX   CelloPub=CLPUB00447;
RX   PubMed=25925601;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Arg201Cys (c.601C>T); ClinVar=VCV000000925; Zygosity=Unspecified (PubMed=25925601).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=25925601
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 8,10
ST   D16S539: 12,13
ST   D18S51: 12,19
ST   D19S433: 13,14.2
ST   D21S11: 30.2,32.2
ST   D2S1338: 19,22
ST   D3S1358: 13,16
ST   D5S818: 12,13
ST   D7S820: 8,9
ST   D8S1179: 13,15
ST   FGA: 19,21
ST   TH01: 6,7
ST   TPOX: 8
ST   vWA: 17,18
DI   NCIt; C84739; GM1 gangliosidosis
DI   ORDO; Orphanet_354; GM1 gangliosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 15
//
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   PubMed=25925601; DOI=10.1002/path.4551;
RA   Son M.-Y., Kwak J.E., Seol B., Lee D.Y., Jeon H., Cho Y.S.;
RT   "A novel human model of the neurodegenerative disease GM1
RT   gangliosidosis using induced pluripotent stem cells demonstrates
RT   inflammasome activation.";
RL   J. Pathol. 237:98-110(2015).
//