ID   ESi077-A
AC   CVCL_UJ71
SY   OF0081-PRPF31c3; PRPF31-MiPS4F3; CABi001-A
DR   BioSamples; SAMEA7484330
DR   hPSCreg; ESi077-A
DR   Wikidata; Q93545418
RX   PubMed=30921587;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/205/Caracteristicas%20-%20Solicitud%20depo%cc%81sito%20PRPF31-MiPS4F3_v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/205/Anexo%20-%20anexos%20deposito%20li%cc%81nea%20PRPF31-MiPS4F3_v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 15446; PRPF31; Simple; p.Trp55Ter (c.165G>A); ClinVar=VCV000804153; Zygosity=Heterozygous (PubMed=30921587).
CC   Caution: The second allele of D7S820 is unreadable in the cell line documentation.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 8,12
ST   D13S317: 8,11
ST   D16S539: 9,12
ST   D21S11: 30,31
ST   D5S818: 11,12
ST   D7S820: 9
ST   TH01: 9,9.3
ST   TPOX: 10,11
ST   vWA: 17,18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 10
//
RX   PubMed=30921587; DOI=10.1016/j.scr.2019.101426;
RA   de la Cerda B., Diez-Lloret A., Ponte B., Valles-Saiz L., Calado S.M.,
RA   Rodriguez-Bocanegra E., Garcia-Delgado A.B., Moya-Molina M.,
RA   Bhattacharya S.S., Diaz-Corrales F.J.;
RT   "Generation and characterization of the human iPSC line CABi001-A from
RT   a patient with retinitis pigmentosa caused by a novel mutation in
RT   PRPF31 gene.";
RL   Stem Cell Res. 36:101426-101426(2019).
//