ID   CIRAi003-A
AC   CVCL_QX86
SY   HPS1036
DR   hPSCreg; CIRAi003-A
DR   RCB; HPS1036
DR   Wikidata; Q54813419
RX   PubMed=29034894;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:10947; SLC20A2; Simple; p.Trp616Ter (c.1848G>A); Zygosity=Heterozygous (PubMed=29034894).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29034894
ST   Amelogenin: X,Y
ST   CSF1PO: 9,11
ST   D13S317: 8
ST   D16S539: 9,11
ST   D18S51: 15,19
ST   D19S433: 13,14
ST   D21S11: 31,34.2
ST   D2S1338: 20,24
ST   D3S1358: 15,17
ST   D5S818: 11,12
ST   D7S820: 10,12
ST   D8S1179: 15
ST   FGA: 21,25
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 17,18
DI   NCIt; C129973; Idiopathic basal ganglia calcification 1
DI   ORDO; Orphanet_1980; Bilateral striopallidodentate calcinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A1SX ! HPS1705
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=29034894; DOI=10.1016/j.scr.2017.07.028;
RA   Sekine S.-i., Kondo T., Murakami N., Imamura K., Enami T.,
RA   Shibukawa R., Tsukita K., Funayama M., Inden M., Kurita H., Hozumi I.,
RA   Inoue H.;
RT   "Induced pluripotent stem cells derived from a patient with familial
RT   idiopathic basal ganglia calcification (IBGC) caused by a mutation in
RT   SLC20A2 gene.";
RL   Stem Cell Res. 24:40-43(2017).
//