ID   RCPFi001-A
AC   CVCL_QX62
SY   RP2-FiPS4F1
DR   hPSCreg; RCPFi001-A
DR   SKIP; SKIP003170
DR   Wikidata; Q54949521
RX   PubMed=28677533;
RX   PubMed=33994920;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/RP2-FiPS4F1%2520Solicitud%2520deposito.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Principe Felipe Centro de Investigacion; Valencia; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:17340; PRPF8; Simple; p.Val2325_Glu2331del (c.6974_6994del21); ClinVar=VCV000916436; Zygosity=Heterozygous (PubMed=28677533; PubMed=33994920).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=28677533
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 11,14
ST   D16S539: 13
ST   D21S11: 29,31
ST   D5S818: 11,12
ST   D7S820: 9,10
ST   TH01: 9.3
ST   TPOX: 8,12
ST   vWA: 16,17
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 10-04-25; Version: 15
//
RX   PubMed=28677533; DOI=10.1016/j.scr.2017.03.007;
RA   Lukovic D., Bolinches-Amoros A., Artero Castro A., Pascual B.,
RA   Carballo M., Hernan I., Erceg S.;
RT   "Generation of a human iPSC line from a patient with retinitis
RT   pigmentosa caused by mutation in PRPF8 gene.";
RL   Stem Cell Res. 21:23-25(2017).
//
RX   PubMed=33994920; DOI=10.3389/fnins.2021.636969; PMCID=PMC8116631;
RA   Arzalluz-Luque A., Cabrera J.L., Skottman H., Benguria A.,
RA   Bolinches-Amoros A., Cuenca-Navarro N., Lupo V., Dopazo A.,
RA   Tarazona S., Delas B., Carballo M., Pascual B., Hernan I., Erceg S.,
RA   Lukovic D.;
RT   "Mutant PRPF8 causes widespread splicing changes in spliceosome
RT   components in retinitis pigmentosa patient iPSC-derived RPE cells.";
RL   Front. Neurosci. 15:636969.1-636969.16(2021).
//