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Cellosaurus ZZUi012-A (CVCL_UL86)

[Text version]
Cell line name ZZUi012-A
Synonyms ZZUi0012-A; ZZU-iPS-PFBC-SLC20A2-001
Accession CVCL_UL86
Resource Identification Initiative To cite this cell line use: ZZUi012-A (RRID:CVCL_UL86)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10947; SLC20A2; Simple; p.Val205Met (c.613G>A); ClinVar=VCV002169534; Zygosity=Heterozygous (PubMed=30776674).
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 14Y
Category Induced pluripotent stem cell
Publications

PubMed=30776674; DOI=10.1016/j.scr.2019.101395
Zhang Q.-X., Li Z., Sun H.-F., Zhang S.-T., Zhang J., Wang Y.-L., Fang H., Xu Y.-M.
Generation of induced pluripotent stem cell line (ZZUi0012-A) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene.
Stem Cell Res. 35:101395-101395(2019)

PubMed=31439445; DOI=10.1016/j.scr.2019.101507
Zhang Q.-X., Li Z., Sun H.-F., Zhang S.-T., Zhang J., Wang Y.-L., Fang H., Xu Y.-M.
Corrigendum to 'Generation of induced pluripotent stem cell line (ZZUi0012-a) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene' [Stem Cell Research volume 35, March 2019, 101,395].
Stem Cell Res. 41:101507-101507(2019)

Cross-references
Cell line databases/resources hPSCreg; ZZUi012-A
SKIP; SKIP005535
Biological sample resources BioSamples; SAMEA4966483
Encyclopedic resources Wikidata; Q98136669
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number10