Cellosaurus cell line IISHDOi003-A (CVCL

Cellosaurus IISHDOi003-A (CVCL_QX87)

Cross-references
Cell line name	IISHDOi003-A
Synonyms	OAS545-FiPS4F1
Accession	CVCL_QX87
Resource Identification Initiative	To cite this cell line use: IISHDOi003-A (RRID:CVCL_QX87)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain. 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; p.Ser545Arg (c.1635C>A); ClinVar=VCV000095712; Zygosity=Heterozygous (PubMed=29034899).
Disease	Optic atrophy 1 (NCIt: C169000) Autosomal dominant optic atrophy, classic form (ORDO: Orphanet_98673)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Web pages	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/114/Caracteristicas%20-%20Documento%20Deposito%20Linea%20OAS545-FiPS4F1-v3.pdf
Publications	PubMed=29034899; DOI=10.1016/j.scr.2017.08.017 Zurita-Diaz F., Galera-Monge T., Moreno-Izquierdo A., Corton M., Ayuso C., Garesse R., Gallardo M.E. Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg. Stem Cell Res. 24:81-84(2017)
Cell line databases/resources	hPSCreg; IISHDOi003-A
Encyclopedic resources	Wikidata; Q54897447
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	13