ID   GM01960
AC   CVCL_M989
SY   GM-1960; GM 1960; GM17063
DR   CLO; CLO_0014560
DR   CLO; CLO_0032344
DR   BioSample; SAMN00807342
DR   Coriell; GM01960
DR   Coriell; GM17063
DR   Wikidata; Q54837207
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6458814;
RX   PubMed=7299037;
CC   Part of: Human variation panel.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 12404; TTPA; Simple; p.Arg221Trp (c.661C>T); ClinVar=VCV000065597; Zygosity=Homozygous (Coriell=GM01960).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155996; Ataxia with isolated vitamin E deficiency
DI   ORDO; Orphanet_96; Ataxia with vitamin E deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 30-01-24; 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) 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=6458814; DOI=10.1073/pnas.78.10.6451;
RA   Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E.,
RA   Robbins J.H.;
RT   "Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in
RT   fibroblasts from patients with Huntington disease, familial
RT   dysautonomia, and other primary neuronal degenerations.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981).
//
RX   PubMed=7299037; DOI=10.1016/0165-022X(81)90016-6;
RA   Sorbi S., Blass J.P.;
RT   "Spectrophotometric measurement of pyruvate dehydrogenase complex
RT   activity in cultured human fibroblasts.";
RL   J. Biochem. Biophys. Methods 5:169-176(1981).
//