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Cellosaurus XACHi012-A (CVCL_A8WL)

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Cell line name XACHi012-A
Accession CVCL_A8WL
Resource Identification Initiative To cite this cell line use: XACHi012-A (RRID:CVCL_A8WL)
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.Ile145Serfs*92 (c.431delC); Zygosity=Heterozygous (PubMed=34088017).
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Trp392Ter (c.1175G>A) (p.Trp265Ter, c.794G>A); ClinVar=VCV000405268; Zygosity=Heterozygous (PubMed=34088017).
Disease Jervell and Lange Nielsen syndrome (NCIt: C84793)
Jervell and Lange-Nielsen syndrome (ORDO: Orphanet_90647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34088017

Markers:
AmelogeninX,Y
CSF1PO10,12
D1S165616,17
D2S133818,21
D3S135815,17
D5S81811
D6S104318,20
D7S82011,12
D8S117913,15
D12S39117,21
D13S3178,12
D16S5399
D18S5115,17
D19S43314,15.2
D21S1130,32.2
FGA20,22.2
Penta D8.2,12
Penta E11,19
TH019
TPOX8
vWA14,17

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Publications

PubMed=34088017; DOI=10.1016/j.scr.2021.102391
Ya-Fei Zhou, Jie Wang, Huan Li, An-Mao Li, Guo-Xia Wang, Xiao-Qiu Tan, Ming Lei, Yan-Min Zhang;
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; XACHi012-A
Encyclopedic resources Wikidata; Q108821529
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5