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Cellosaurus UCSFi002-A (CVCL_E8WP)

[Text version]
Cell line name UCSFi002-A
Accession CVCL_E8WP
Resource Identification Initiative To cite this cell line use: UCSFi002-A (RRID:CVCL_E8WP)
Comments From: Icahn School of Medicine at Mount Sinai; New York; USA.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
Disease Myofibrillar myopathy 6 (NCIt: C217088)
Muscular dystrophy, Selcen type (ORDO: Orphanet_199340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_E8WQ (UCSFi002-A-1)
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
Biological sample resources BioSamples; SAMEA116084039
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1