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Cellosaurus XACHi004-A (CVCL_YM77)

[Text version]
Cell line name XACHi004-A
Accession CVCL_YM77
Resource Identification Initiative To cite this cell line use: XACHi004-A (RRID:CVCL_YM77)
Comments From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10484; RYR2; Simple; p.Val4880Ile (c.14638G>A); ClinVar=VCV001439521; Zygosity=Heterozygous (PubMed=36335801).
Disease Atrial fibrillation (NCIt: C50466)
Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=36335801; DOI=10.1016/j.scr.2022.102955
Zhou Y.-F., Jiang C.-S., Wang J., Huang W.-J., Zhang Y.-M., Zhou R.
Generation of one human induced pluripotent stem cell line (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial fibrillation patient.
Stem Cell Res. 65:102955-102955(2022)

Cross-references
Cell line databases/resources hPSCreg; XACHi004-A
Biological sample resources BioSamples; SAMEA111507229
Encyclopedic resources Wikidata; Q98135109
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number5