ID   ESi066-A
AC   CVCL_WN56
SY   RP3-FiPS4F1
DR   hPSCreg; ESi066-A
DR   Wikidata; Q93545375
RX   PubMed=31082679;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Solicitud%2520de%2520deposito%2520RP3-FiPS4F1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:21699; CERKL; Simple; p.Arg283Ter (c.847C>T) (p.Arg257Ter, c.769C>T); ClinVar=VCV000002364; Zygosity=Homozygous (PubMed=31082679).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 10-04-25; Version: 11
//
RX   PubMed=31082679; DOI=10.1016/j.scr.2019.101455;
RA   Bolinches-Amoros, Arantxa
RA   Leon, Marian
RA   del Buey Furio, Veronica
RA   Marfany, Gemma
RA   Gonzalez-Duarte, Roser
RA   Erceg, Slaven
RA   Lukovic, Dunja
RT   "Generation of an iPSC line from a retinitis pigmentosa patient
RT   carrying a homozygous mutation in CERKL and a healthy sibling.";
RL   Stem Cell Res. 38:101455-101455(2019).
//