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Cellosaurus METUi002-A (CVCL_D0I4)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; METUi002-A
Biological sample resources BioSamples; SAMEA114467819
Encyclopedic resources Wikidata; Q123033036
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2