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; 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: 19-12-24; Version: 16
CH   CVCL_VE85 ! GM02439 GM1-iPSC clone 2
CH   CVCL_VE86 ! GM02439 GM1-iPSC clone 3
//
RX   PubMed=25925601; DOI=10.1002/path.4551;
RA   Son, Mi-Young
RA   Kwak, Jae Eun
RA   Seol, Binna
RA   Lee, Da Yong
RA   Jeon, Hyejin
RA   Cho, Yee Sook
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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//