| 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 sampling site: Skin; dermis. |
| Sequence variations | Mutation; 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 |
| Cross-references | |
| Cell line databases/resources | hPSCreg; RCPFi007-A |
| Other | Wikidata; Q93453603 |
| Entry history | |
| Entry creation | 13-Nov-2018 |
| Last entry update | 20-May-2021 |
| Version number | 5 |