ID   ESi132-A
AC   CVCL_E3V2
SY   PRPF3181-MiPS4F5
DR   BioSamples; SAMEA115425275
DR   hPSCreg; ESi132-A
RX   PubMed=39755010;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/0/anexos+deposito+l%C3%ADnea+PRPF31-MiPS4F5.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_+PRPF3181-MiPS4F5+01.10.24+sg.pdf
CC   From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
CC   From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Trp55Ter (c.165G>A); ClinVar=VCV000804153; Zygosity=Heterozygous (PubMed=39755010).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11
ST   D16S539: 11,12
ST   D18S51: 13,14
ST   D19S433: 12,15.2
ST   D21S11: 30,31
ST   D2S1338: 17
ST   D3S1358: 14,18
ST   D5S818: 11,12
ST   D7S820: 9,11
ST   D8S1179: 10,13
ST   FGA: 21
ST   TH01: 7,9
ST   TPOX: 10,11
ST   vWA: 16,18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 10-04-25; Version: 2
//
RX   PubMed=39755010; DOI=10.1016/j.scr.2024.103623;
RA   Caballano-Infantes E., Clauzon L., de la Cerda Haynes B.,
RA   Diaz-Corrales F.J.;
RT   "Generation of the human iPSC line ESi132-A from a patient with
RT   retinitis pigmentosa caused by a mutation in the PRPF31 gene.";
RL   Stem Cell Res. 82:103623-103623(2025).
//