ID   GM01565
AC   CVCL_9R62
SY   GM-1565
DR   CLO; CLO_0031449
DR   BioSample; SAMN00806918
DR   Coriell; GM01565
DR   Wikidata; Q54836913
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Sequence variation: Mutation; HGNC; 2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (Coriell=GM01565).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (Coriell=GM01565).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM01565).
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   NCIt; C81315; Phenylketonuria
DI   ORDO; Orphanet_212; Cystathioninuria
DI   ORDO; Orphanet_716; Phenylketonuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; 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   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).
//