ID   GM00502
AC   CVCL_U382
SY   GM-502; GM00502B
DR   CLO; CLO_0025945
DR   Coriell; GM00502
DR   Wikidata; Q54836268
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=25732146;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM00502).
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM00502).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11M
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 17
//
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=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755;
RA   Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N.,
RA   Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M.,
RA   Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A.,
RA   Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H.,
RA   Valle D.L., O'Donnell P., Sawa A., Kai M.;
RT   "Clinical utility of neuronal cells directly converted from
RT   fibroblasts of patients for neuropsychiatric disorders: studies of
RT   lysosomal storage diseases and channelopathy.";
RL   Curr. Mol. Med. 15:138-145(2015).
//