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;
RX   PubMed=38552357;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (Coriell=GM01565).
CC   Sequence variation: Mutation; HGNC; HGNC:8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (Coriell=GM01565).
CC   Sequence variation: Mutation; HGNC; 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: 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=38552357; DOI=10.1016/j.scr.2024.103407;
RA   Veleva D., Ay M., Ovchinnikov D.A., Prowse A.B.J., Menezes M.J.,
RA   Nafisinia M.;
RT   "Generation of two lymphoblastoid-derived induced pluripotent stem
RT   cell (iPSC) lines from patients with phenylketonuria.";
RL   Stem Cell Res. 77:103407-103407(2024).
//