ID   RCPFi001-A
AC   CVCL_QX62
SY   RP2-FiPS4F1
DR   hPSCreg; RCPFi001-A
DR   SKIP; SKIP003170
DR   Wikidata; Q54949521
RX   PubMed=28677533;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/115/Caracteristicas%20-%20RP2-FiPS4F1%20Solicitud%20deposito.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; 17340; PRPF8; Simple; p.Val2325_Glu2331del (c.6974_6994del21); ClinVar=VCV000916436; Zygosity=Heterozygous (PubMed=28677533).
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: 29-06-23; Version: 13
//
RX   PubMed=28677533; DOI=10.1016/j.scr.2017.03.007;
RA   Lukovic D., Bolinches-Amoros A., Castro A.A., Pascual B., Carballo M.,
RA   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).
//