ID   GM01566
AC   CVCL_GY17
SY   GM-1566
DR   CLO; CLO_0031450
DR   BioSample; SAMN00806919
DR   Coriell; GM01566
DR   Wikidata; Q54836914
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   HLA typing: A*01,28; B*13,w35 (Coriell=GM01566).
CC   Karyotypic information: 47,XX,+12 [66%]; 46,XX,-10,+12 [30%]; 45,XX,-10 [4%] (Coriell=GM01566).
CC   Sequence variation: Mutation; HGNC; 2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Heterozygous (Coriell=GM01566).
CC   Sequence variation: Mutation; HGNC; 2501; CTH; Simple; p.Thr355Ilefs*19 (c.1064delC); ClinVar=VCV001033458; Zygosity=Heterozygous (Coriell=GM01566).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129070; Cystathioninuria
DI   ORDO; Orphanet_212; Cystathioninuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 30-01-24; Version: 14
//
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).
//