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Cellosaurus HIMRi005-A (CVCL_D6P0)

[Text version]
Cell line name HIMRi005-A
Synonyms FLNC p.Y2704X hiPSC
Accession CVCL_D6P0
Resource Identification Initiative To cite this cell line use: HIMRi005-A (RRID:CVCL_D6P0)
Comments From: Heimer Institute for Muscle Research; Bochum; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3756; FLNC; Simple; p.Asp2703_Tyr2704insTer (c.8112delC); ClinVar=VCV002580944; Zygosity=Heterozygous (PubMed=38309149).
Disease Myofibrillar myopathy 5 (NCIt: C206670)
Muscle filaminopathy (ORDO: Orphanet_171445)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=38309149; DOI=10.1016/j.scr.2024.103320
Daya N.M., Doring K., Zhuge H., Volke L., Stab V., Dietz J., Athamneh M.J., Roos A., Zaehres H., Guttsches A.-K., Mavrommatis L., Vorgerd M.
Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.
Stem Cell Res. 76:103320-103320(2024)

Cross-references
Cell line databases/resources hPSCreg; HIMRi005-A
Biological sample resources BioSamples; SAMEA114710075
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1