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Cellosaurus IBMS-iPSC-012-12 (CVCL_LJ95)

[Text version]
Cell line name IBMS-iPSC-012-12
Synonyms IBMSi001-A
Accession CVCL_LJ95
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-012-12 (RRID:CVCL_LJ95)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Ala1458Profs*64 (c.4369_4370delTC) (p.Ser1457fs); Zygosity=Heterozygous (PubMed=29034881).
Disease Autosomal dominant polycystic kidney disease (NCIt: C84578)
Autosomal dominant polycystic kidney disease (ORDO: Orphanet_730)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29034881

Markers:
AmelogeninX,Y
CSF1PO9,10
D2S133822,23
D3S135816
D5S81810,12
D7S82011,12
D8S117914
D13S31711,12
D16S53910,11
D18S5116,18
D19S43314
D21S1130,31
FGA22
TH017,9
TPOX8,11
vWA18,20

Run an STR similarity search on this cell line
Publications

PubMed=29034881; DOI=10.1016/j.scr.2017.09.004
Huang C.-Y., Ho M.-C., Lee J.-J., Hwang D.-Y., Ko H.-W., Cheng Y.-C., Hsu Y.-H., Lu H.-E., Chen H.-C., Hsieh P.C.-H.
Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1.
Stem Cell Res. 24:139-143(2017)

Cross-references
Cell line collections (Providers) BCRC; SC81042
BCRC; SC81043
Cell line databases/resources hPSCreg; IBMSi001-A
SKIP; SKIP005629
SKIP; SKIP005630
Biological sample resources BioSamples; SAMEA104387150
Encyclopedic resources Wikidata; Q54897189
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number10