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Cellosaurus CIRAi003-A (CVCL_QX86)

[Text version]

Cell line name CIRAi003-A
Synonyms HPS1036
Accession CVCL_QX86
Resource Identification Initiative To cite this cell line use: CIRAi003-A (RRID:CVCL_QX86)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 10947; SLC20A2; Simple; p.Trp616Ter (c.1848G>A); Zygosity=Heterozygous (PubMed=29034894).
Disease Idiopathic basal ganglia calcification 1 (NCIt: C129973)
Bilateral striopallidodentate calcinosis (ORDO: Orphanet_1980)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1SX ! HPS1705
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29034894

Markers:
AmelogeninX,Y
CSF1PO9,11
D2S133820,24
D3S135815,17
D5S81811,12
D7S82010,12
D8S117915
D13S3178
D16S5399,11
D18S5115,19
D19S43313,14
D21S1131,34.2
FGA21,25
TH017,9
TPOX8
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=29034894; DOI=10.1016/j.scr.2017.07.028
Sekine S.-I., Kondo T., Murakami N., Imamura K., Enami T., Shibukawa R., Tsukita K., Funayama M., Inden M., Kurita H., Hozumi I., Inoue H.
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene.
Stem Cell Res. 24:40-43(2017)

Cross-references
Cell line collections RCB; HPS1036
Cell line databases/resources hPSCreg; CIRAi003-A
Encyclopedic resources Wikidata; Q54813419
Entry history
Entry creation15-Nov-2017
Last entry update20-May-2021
Version number8