Cellosaurus cell line IISHDOi006-A (CVCL

Cellosaurus IISHDOi006-A (CVCL_XI73)

Cross-references
Cell line name	IISHDOi006-A
Synonyms	DOA2259-FiPS4F-8
Accession	CVCL_XI73
Resource Identification Initiative	To cite this cell line use: IISHDOi006-A (RRID:CVCL_XI73)
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:118; ACO2; Simple; p.Glu667Lys (c.1999G>A); ClinVar=VCV001444087; Zygosity=Heterozygous (PubMed=31509793).
Disease	Autosomal dominant optic atrophy (NCIt: C84577) Autosomal dominant optic atrophy (ORDO: Orphanet_98672)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	30Y
Category	Induced pluripotent stem cell
Web pages	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/182/Caracteristicas%20-%20Solicitud%20de%20deposito-DOA2259-FiPS4F-8-v2.pdf
Publications	PubMed=31509793; DOI=10.1016/j.scr.2019.101566 Cerrada V., Garcia-Lopez M., Moreno-Izquierdo A., Villaverde C., Zurita O., Martin-Merida M.I., Arenas J., Ayuso C., Gallardo M.E. Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys. Stem Cell Res. 40:101566-101566(2019)
Cell line databases/resources	hPSCreg; IISHDOi006-A
Encyclopedic resources	Wikidata; Q94315438
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10