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Cellosaurus XACHi015-A (CVCL_B0GT)

[Text version]
Cell line name XACHi015-A
Accession CVCL_B0GT
Resource Identification Initiative To cite this cell line use: XACHi015-A (RRID:CVCL_B0GT)
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; 6251; KCNH2; Simple; p.Pro605Leu (c.1814C>T); ClinVar=VCV000067284; Zygosity=Heterozygous (PubMed=34438161).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=34438161; DOI=10.1016/j.scr.2021.102509
Wang T., Zhou Y.-F., Zhou R., Huang W.-J., Wang J., Li H., Lei M., Tan X.-Q., Zhang Y.-M.
Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2.
Stem Cell Res. 56:102509-102509(2021)

Cross-references
Cell line databases/resources hPSCreg; XACHi015-A
Encyclopedic resources Wikidata; Q108821532
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4