ID   METUi002-A
AC   CVCL_D0I4
DR   BioSamples; SAMEA114467819
DR   hPSCreg; METUi002-A
DR   Wikidata; Q123033036
RX   PubMed=37866220;
CC   From: Middle East Technical University; Ankara; Turkey.
CC   Sequence variation: Mutation; HGNC; 10947; SLC20A2; Simple; p.Val230Cysfs*28 (c.687dupT); ClinVar=VCV002098481; Zygosity=Heterozygous (PubMed=37866220).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129973; Idiopathic basal ganglia calcification 1
DI   ORDO; Orphanet_1980; Bilateral striopallidodentate calcinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37866220; DOI=10.1016/j.scr.2023.103226;
RA   Begentas O.C., Koc D., Kayali Sendur N., Besarat P., Ezgin S.,
RA   Temel M., Tokcaer Bora H.A., Kiris E.;
RT   "Generation and characterization of human induced pluripotent stem
RT   cell line METUi002-A from a patient with primary familial brain
RT   calcification (PFBC) carrying a heterozygous mutation (c.687dupT
RT   (p.Val230CysfsTer28)) in the SLC20A2 gene.";
RL   Stem Cell Res. 72:103226-103226(2023).
//