Cellosaurus cell line IBMS-iPSC-014-05 (CVCL

Cellosaurus IBMS-iPSC-014-05 (CVCL_QY07)

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Cell line name

IBMS-iPSC-014-05

Synonyms

IBMSi003-A

Accession

CVCL_QY07

Resource Identification Initiative

To cite this cell line use: IBMS-iPSC-014-05 (RRID:CVCL_QY07)

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:9009; PKD2; Simple; p.Arg803Ter (c.2407C>T); ClinVar=VCV000618321; Zygosity=Heterozygous (PubMed=29055226).

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)

Hierarchy

Children:

CVCL_ZE87 (IBMS-iPSC-014-C)

Sex of cell

Female

Age at sampling

63Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=29055226

Markers:

Amelogenin	X
CSF1PO	12,13
D2S1338	19,24
D3S1358	15,17
D5S818	11
D7S820	8
D8S1179	14,15
D13S317	10,11
D16S539	9,11
D18S51	14
D19S433	13
D21S11	29,30
FGA	21,24
TH01	8,9
TPOX	9,11
vWA	14

Publications

PubMed=29055226; DOI=10.1016/j.scr.2017.10.005
Ming-Ching Ho, Ching-Ying Huang, Jia-Jung Lee, Shih-Han Hsu, Yu-Che Cheng, Yu-Hung Hsu, Daw-Yang Hwang, Huai-En Lu, Hung-Chun Chen, Patrick Ching-Ho Hsieh;
Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2.
Stem Cell Res. 25:38-41(2017)

Cross-references

Cell line collections (Providers)

BCRC; SC81046
BCRC; SC81047

Cell line databases/resources

hPSCreg; IBMSi003-A
SKIP; SKIP005633
SKIP; SKIP005634

Biological sample resources

BioSamples; SAMEA104387752

Encyclopedic resources

Wikidata; Q54897192

Entry history

Entry creation

05-Mar-2018

Last entry update

19-Dec-2024

Version number