Cellosaurus cell line METUi002-A (CVCL

Cross-references
Cell line name	METUi002-A
Accession	CVCL_D0I4
Resource Identification Initiative	To cite this cell line use: METUi002-A (RRID:CVCL_D0I4)
Comments	From: Middle East Technical University; Ankara; Turkey. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10947; SLC20A2; Simple; p.Val230Cysfs*28 (c.687dupT); ClinVar=VCV002098481; Zygosity=Heterozygous (PubMed=37866220).
Disease	Idiopathic basal ganglia calcification 1 (NCIt: C129973) Bilateral striopallidodentate calcinosis (ORDO: Orphanet_1980)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	42Y
Category	Induced pluripotent stem cell
Publications	PubMed=37866220; DOI=10.1016/j.scr.2023.103226 Begentas O.C., Koc D., Kayali Sendur N., Besarat P., Ezgin S., Temel M., Tokcaer Bora H.A., Kiris E. Generation and characterization of human induced pluripotent stem cell line METUi002-A from a patient with primary familial brain calcification (PFBC) carrying a heterozygous mutation (c.687dupT (p.Val230CysfsTer28)) in the SLC20A2 gene. Stem Cell Res. 72:103226-103226(2023)
Cell line databases/resources	hPSCreg; METUi002-A
Biological sample resources	BioSamples; SAMEA114467819
Encyclopedic resources	Wikidata; Q123033036
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3