ID   ZZUi012-A
AC   CVCL_UL86
SY   ZZUi0012-A; ZZU-iPS-PFBC-SLC20A2-001
DR   BioSamples; SAMEA4966483
DR   hPSCreg; ZZUi012-A
DR   SKIP; SKIP005535
DR   Wikidata; Q98136669
RX   PubMed=30776674;
RX   PubMed=31439445;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10947; SLC20A2; Simple; p.Val205Met (c.613G>A); ClinVar=VCV002169534; Zygosity=Heterozygous (PubMed=30776674).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   14Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 10
//
RX   PubMed=30776674; DOI=10.1016/j.scr.2019.101395;
RA   Zhang Q.-X., Li Z., Sun H.-F., Zhang S.-T., Zhang J., Wang Y.-L.,
RA   Fang H., Xu Y.-M.;
RT   "Generation of induced pluripotent stem cell line (ZZUi0012-A) from a
RT   patient with Fahr's disease caused by a novel mutation in SLC20A2
RT   gene.";
RL   Stem Cell Res. 35:101395-101395(2019).
//
RX   PubMed=31439445; DOI=10.1016/j.scr.2019.101507;
RA   Zhang Q.-X., Li Z., Sun H.-F., Zhang S.-T., Zhang J., Wang Y.-L.,
RA   Fang H., Xu Y.-M.;
RT   "Corrigendum to 'Generation of induced pluripotent stem cell line
RT   (ZZUi0012-a) from a patient with Fahr's disease caused by a novel
RT   mutation in SLC20A2 gene' [Stem Cell Research volume 35, March 2019,
RT   101,395].";
RL   Stem Cell Res. 41:101507-101507(2019).
//