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Cellosaurus UCSFi002-A-1 (CVCL_E8WQ)

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Cell line name UCSFi002-A-1
Synonyms UKBi024-A-1
Accession CVCL_E8WQ
Resource Identification Initiative To cite this cell line use: UCSFi002-A-1 (RRID:CVCL_E8WQ)
Comments From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
Population: Caucasian.
Omics: Variations; SNP array analysis.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:939; BAG3; Simple_corrected; p.Pro209Leu (c.626C>T); ClinVar=VCV000005981; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39662461).
Disease Myofibrillar myopathy 6 (NCIt: C217088)
Muscular dystrophy, Selcen type (ORDO: Orphanet_199340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E8WP (UCSFi002-A)
Sex of cell Female
Age at sampling 15-19Y
Category Induced pluripotent stem cell
Publications

PubMed=39662461; DOI=10.1016/j.scr.2024.103626
Kerstin Filippi, Isabelle Risse, Luke M. Judge, Bruce R. Conklin, Bernd K. Fleischmann, Michael Hesse;
Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.
Stem Cell Res. 82:103626-103626(2025)

Cross-references
Cell line databases/resources hPSCreg; UCSFi002-A-1
Biological sample resources BioSamples; SAMEA116132044
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1