Cellosaurus cell line RCPFi007-A (CVCL

Cross-references
Cell line name	RCPFi007-A
Synonyms	LCA-FiPS4F1; CIPFi001-A
Accession	CVCL_UF40
Resource Identification Initiative	To cite this cell line use: RCPFi007-A (RRID:CVCL_UF40)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Principe Felipe Centro de Investigacion; Valencia; Spain. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:359; AIPL1; Simple; p.Cys89Arg (c.265T>C); ClinVar=VCV000574505; Zygosity=Homozygous (PubMed=30366342).
Disease	Leber congenital amaurosis (NCIt: C129075) Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	31Y
Category	Induced pluripotent stem cell
Web pages	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/171/Caracteristicas%20-%20Formulario%20de%20deposito%20LCA-FiPS4F1.pdf
Publications	PubMed=30366342; DOI=10.1016/j.scr.2018.10.012 Lukovic D., Artero Castro A., Leon M., del Buey Furio V., Corton M., Ayuso C., Erceg S. Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1. Stem Cell Res. 33:151-155(2018)
Cell line databases/resources	hPSCreg; RCPFi007-A
Encyclopedic resources	Wikidata; Q93453603
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	9