Home  |  Contact

Cellosaurus HKUi002-A (CVCL_ZA51)

[Text version]
Cell line name HKUi002-A
Synonyms HKUi002-A-AYC12; AYC12
Accession CVCL_ZA51
Resource Identification Initiative To cite this cell line use: HKUi002-A (RRID:CVCL_ZA51)
Comments From: Department of Paediatrics and Adolescent Medicine, University of Hong Kong; Hong Kong; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Simple; c.31+1G>A; ClinVar=VCV001070319; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=33099108).
Disease Dilated cardiomyopathy (NCIt: C84673)
Dilated cardiomyopathy (ORDO: Orphanet_217604)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 23Y
Category Induced pluripotent stem cell
Publications

PubMed=33099108; DOI=10.1016/j.scr.2020.102040
Zhu S., Law A.H.-Y., Deng R.-X., Poon E.N.-Y., Lo C.-W., Kwong A.K.-Y., Liang R., Chan K.Y.-K., Wong W.-L., Tan-Un K.-C., Pijnappel W.W.M.P., Chan G.C.-F., Chan S.H.-S.
Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation.
Stem Cell Res. 49:102040-102040(2020)

Cross-references
Cell line databases/resources hPSCreg; HKUi002-A
Biological sample resources BioSamples; SAMEA6880596
Encyclopedic resources Wikidata; Q98126688
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7