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Cellosaurus UKBi022-A-1 (CVCL_E8WI)

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Cell line name UKBi022-A-1
Synonyms iLB-BAG3-301bm-s2 BAG3 edit
Accession CVCL_E8WI
Resource Identification Initiative To cite this cell line use: UKBi022-A-1 (RRID:CVCL_E8WI)
Comments From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
Omics: Variations; SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:939; BAG3; Simple_corrected; p.Pro209Leu (c.626C>T); ClinVar=VCV000005981; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39662463).
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_E8WH (UKBi022-A)
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=39662463; DOI=10.1016/j.scr.2024.103627
Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse;
Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6.
Stem Cell Res. 82:103627-103627(2025)

Cross-references
Cell line databases/resources hPSCreg; UKBi022-A-1
Biological sample resources BioSamples; SAMEA116131058
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1