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Cellosaurus XACHi013-A (CVCL_A8WM)

[Text version]
Cell line name XACHi013-A
Accession CVCL_A8WM
Resource Identification Initiative To cite this cell line use: XACHi013-A (RRID:CVCL_A8WM)
Comments From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Trp392Ter (c.1175G>A) (p.Trp265Ter, c.794G>A); ClinVar=VCV000405268; Zygosity=Heterozygous (PubMed=34088017).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34088017

Markers:
AmelogeninX,Y
CSF1PO10,12
D1S165616
D2S133818,23
D3S135814,17
D5S81811
D6S104313,20
D7S82012
D8S117913,16
D12S39118,21
D13S31710,12
D16S5399
D18S5113,17
D19S43314
D21S1129,30
FGA20,23
Penta D8,12
Penta E11,13
TH019
TPOX7
vWA17

Run an STR similarity search on this cell line
Publications

PubMed=34088017; DOI=10.1016/j.scr.2021.102391
Zhou Y.-F., Wang J., Li H., Li A.-M., Wang G.-X., Tan X.-Q., Lei M., Zhang Y.-M.
Establishment of iPSC line from a Chinese infant (XACHi012-A) with Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift c.431delC(p.I145Sfs*92) and nonsense c.1175G > A (p.W392X) variants and two iPSC lines from the parents (XACHi013-A, XACHi014-A).
Stem Cell Res. 53:102391-102391(2021)

Cross-references
Cell line databases/resources hPSCreg; XACHi013-A
Encyclopedic resources Wikidata; Q108821530
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5