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Cellosaurus XACHi014-A (CVCL_A8WN)

[Text version]
Cell line name XACHi014-A
Accession CVCL_A8WN
Resource Identification Initiative To cite this cell line use: XACHi014-A (RRID:CVCL_A8WN)
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; 6294; KCNQ1; Simple; p.Ile145Serfs*92 (c.431delC); Zygosity=Heterozygous (PubMed=34088017).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34088017

Markers:
AmelogeninX
CSF1PO11,12
D1S165615,17
D2S133821,26
D3S135815
D5S81811,12
D6S104318
D7S82011,12
D8S117914,15
D12S39117,24
D13S3178,9
D16S5399
D18S5115,16
D19S43313,15.2
D21S1130,32.2
FGA22.2,23
Penta D11,12
Penta E13,19
TH019
TPOX8
vWA14,17

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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; XACHi014-A
Encyclopedic resources Wikidata; Q108821531
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4