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Cellosaurus IISHDOi006-A (CVCL_XI73)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; IISHDOi006-A
Encyclopedic resources Wikidata; Q94315438
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9