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Cellosaurus CUi001-A-1 (CVCL_A8ZC)

[Text version]
Cell line name CUi001-A-1
Synonyms WB1-10 WRNKI-Cre18
Accession CVCL_A8ZC
Resource Identification Initiative To cite this cell line use: CUi001-A-1 (RRID:CVCL_A8ZC)
Comments From: Chiba University; Chiba; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=34087989).
  • Mutation; HGNC; HGNC:12791; WRN; Simple_corrected; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (PubMed=34087989).
Disease Werner syndrome (NCIt: C3447)
Werner syndrome (ORDO: Orphanet_902)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A8ZB (CUi001-A)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34087989

Markers:
AmelogeninX,Y
CSF1PO12
D1S165617
D2S44111,13
D2S133819,22
D3S135815,16
D5S8189,10
D7S82010
D8S117911,14
D10S124812,13
D12S39118,20
D13S31710,12
D16S5399,10
D18S5119,20
D19S43314,15.2
D21S1129
D22S104511,17
DYS39110
FGA19,26
SE3317,21
TH019
TPOX11,12
vWA14,17

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Publications

PubMed=34087989; DOI=10.1016/j.scr.2021.102360
Kato H., Maezawa Y., Ouchi Y., Takayama N., Sone M., Sone K., Takada-Watanabe A., Tsujimura K., Koshizaka M., Nagasawa S., Saitoh H., Ohtaka M., Nakanishi M., Tahara H., Shimamoto A., Iwama A., Eto K., Yokote K.
Generation of disease-specific and CRISPR/Cas9-mediated gene-corrected iPS cells from a patient with adult progeria Werner syndrome.
Stem Cell Res. 53:102360-102360(2021)

Cross-references
Cell line databases/resources hPSCreg; CUi001-A-1
Encyclopedic resources Wikidata; Q108820094
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5