ID   FRIMOi005-A
AC   CVCL_WS11
SY   RP3_FiPSC4F11; RP3_FiPS4F11
DR   BioSamples; SAMEA7352797
DR   hPSCreg; FRIMOi005-A
DR   Wikidata; Q93556550
RX   PubMed=31146251;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/166/Caracteristicas%20-%20Solicitud%20deposito_RP3_FiPSC4F11_V2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/166/Anexo%20-%20ANEXOS%20RP3_FiPS4F1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Fundacio de Recerca de l'Institut de Microcirurgia Ocular; Barcelona; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10012; RHO; Simple; p.Pro215Leu (c.644C>T); ClinVar=VCV000870955; Zygosity=Heterozygous (PubMed=31146251).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11,13
ST   D16S539: 8,12
ST   D18S51: 13,18
ST   D19S433: 13,15
ST   D21S11: 28,31.2
ST   D2S1338: 17,19
ST   D3S1358: 18
ST   D5S818: 12,13
ST   D7S820: 12,14
ST   D8S1179: 12,14
ST   FGA: 21
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 30-01-24; Version: 10
//
RX   PubMed=31146251; DOI=10.1016/j.scr.2019.101468;
RA   Domingo-Prim J., Riera M., Bures-Jelstrup A., Corcostegui B.,
RA   Pomares E.;
RT   "Establishment of an induced pluripotent stem cell line (FRIMOi005-A)
RT   derived from a retinitis pigmentosa patient carrying a dominant
RT   mutation in RHO gene.";
RL   Stem Cell Res. 38:101468-101468(2019).
//