Cellosaurus cell line HIMRi005-A (CVCL

Cross-references
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; 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 Nassa M. Daya, Kristina Doring, Heidi Zhuge, Leon Volke, Viktoria Stab, Julienne Dietz, Mohammad Jamil Athamneh, Andreas Roos, Holm Zaehres, Anne-Katrin Guttsches, Lampros Mavrommatis, Matthias Vorgerd; 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)
Cell line databases/resources	hPSCreg; HIMRi005-A
Biological sample resources	BioSamples; SAMEA114710075
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2