Cellosaurus cell line iPS-OPA1-BEHR (CVCL

Cross-references
Cell line name	iPS-OPA1-BEHR
Accession	CVCL_A4NS
Resource Identification Initiative	To cite this cell line use: iPS-OPA1-BEHR (RRID:CVCL_A4NS)
Comments	From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:8140; OPA1; Simple; c.557-668G>A (c.610+364G>A); ClinVar=VCV000496968; Zygosity=Heterozygous (PubMed=27879217). Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Ile382Met (c.1146A>G); ClinVar=VCV000050866; Zygosity=Heterozygous (PubMed=27879217).
Disease	Behr syndrome (NCIt: C177251) Hereditary optic neuropathy (ORDO: Orphanet_98671)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	48Y
Category	Induced pluripotent stem cell
Publications	PubMed=27879217; DOI=10.1016/j.scr.2016.09.012 Hauser S., Schuster S., Theurer Y., Synofzik M., Schols L. Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). Stem Cell Res. 17:426-429(2016)
Cell line databases/resources	SKIP; SKIP003038
Encyclopedic resources	Wikidata; Q105509696
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6