Cellosaurus cell line CiRA00008 (CVCL

Cellosaurus CiRA00008 (CVCL_RL48)

[Text version]

Cell line name

CiRA00008

Synonyms

ADPKD_P5-iPSCs

Accession

CVCL_RL48

Resource Identification Initiative

To cite this cell line use: CiRA00008 (RRID:CVCL_RL48)

Comments

From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Glu2111Lys (c.6331G>A); ClinVar=VCV001194414; Zygosity=Unspecified (PubMed=27418197).
Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Arg2327Trp (c.6979C>T); ClinVar=VCV000618812; Zygosity=Unspecified (PubMed=27418197).

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

41Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=27418197

Markers:

Amelogenin	X,Y
CSF1PO	9,11
D3S1358	15,16
D5S818	7,12
D7S820	8,14
D8S1179	12,14
D13S317	11,12
D16S539	9,10
D18S51	17,21
D21S11	31,31.2
FGA	22
Penta D	9
Penta E	15,21
TH01	7
TPOX	8,11
vWA	16,17

Publications

PubMed=27418197; DOI=10.1038/srep30013; PMCID=PMC4945931
Ameku T., Taura D., Sone M., Numata T., Nakamura M., Shiota F., Toyoda T., Matsui S., Araoka T., Yasuno T., Mae S.-i., Kobayashi H., Kondo N., Kitaoka F., Amano N., Arai S., Ichisaka T., Matsuura N., Inoue S., Yamamoto T., Takahashi K., Asaka I., Yamada Y., Ubara Y., Muso E., Fukatsu A., Watanabe A., Sato Y., Nakahata T., Mori Y., Koizumi A., Nakao K., Yamanaka S., Osafune K.
Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.
Sci. Rep. 6:30013-30013(2016)

Cross-references

Cell line databases/resources

SKIP; SKIP001461

Encyclopedic resources

Wikidata; Q54813387

Entry history

Entry creation

05-Mar-2018

Last entry update

19-Dec-2024

Version number