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Cellosaurus IBMS-iPSC-013-06 (CVCL_QY05)

[Text version]
Cell line name IBMS-iPSC-013-06
Synonyms IBMSi002-A
Accession CVCL_QY05
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-013-06 (RRID:CVCL_QY05)
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.Gln533Ter (c.1597C>T); Zygosity=Heterozygous (PubMed=29121521).
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)
Originate from same individual CVCL_RP79 ! IBMS-iPSC-013-07
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29121521

Markers:
AmelogeninX,Y
CSF1PO12
D2S133819,24
D3S135815,16
D5S8189,11
D7S8208,11
D8S117912,14
D13S3178,9
D16S5399,11
D18S5113,14
D19S43314,14.2
D21S1129,30
FGA18,23
TH017,10
TPOX8,11
vWA14,17

Run an STR similarity search on this cell line
Publications

PubMed=29121521; DOI=10.1016/j.scr.2017.10.026
Lee J.-J., Ho M.-C., Huang C.-Y., Wen C.-H., Cheng Y.-C., Hsu Y.-H., Hwang D.-Y., Lu H.-E., Chen H.-C., Hsieh P.C.-H.
Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation.
Stem Cell Res. 25:83-87(2017)

Cross-references
Cell line databases/resources hPSCreg; IBMSi002-A
SKIP; SKIP005871
Biological sample resources BioSamples; SAMEA104387750
Encyclopedic resources Wikidata; Q54897190
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10