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Cellosaurus ICSSUi004-A (CVCL_D6NU)

[Text version]
Cell line name ICSSUi004-A
Synonyms hiPSC-CRYAB-c.326A>G; hiPSC-CRYABD109G
Accession CVCL_D6NU
Resource Identification Initiative To cite this cell line use: ICSSUi004-A (RRID:CVCL_D6NU)
Comments From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2389; CRYAB; Simple; p.Asp109Gly (c.326A>G); ClinVar=VCV000265829; Zygosity=Heterozygous (PubMed=38428347).
Disease Restrictive cardiomyopathy (NCIt: C62798)
Restrictive cardiomyopathy (ORDO: Orphanet_217632)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=38428347; DOI=10.1016/j.scr.2024.103370
Li J.-X., Jiang J.-X., Ye L.-Q., Lian Z.-P., Gong H., Lei W., Dai Y.-X., Hu S.-J.
Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy.
Stem Cell Res. 76:103370-103370(2024)

Cross-references
Cell line databases/resources hPSCreg; ICSSUi004-A
Biological sample resources BioSamples; SAMEA115064445
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1