ID   FRIMOi001-A
AC   CVCL_UM39
SY   RP1_FiPS4F1.6
DR   BioSamples; SAMEA7340580
DR   hPSCreg; FRIMOi001-A
DR   Wikidata; Q93556539
RX   PubMed=30685614;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/155/Caracteristicas%20-%20Solicitud%20deposito_RP1_FiPS4F1.6-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/155/Anexo%20-%20ANEXOS%20RP1_FiPS4F1.6-v2.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; 8785; PDE6A; Simple; p.Arg102His (c.305G>A); ClinVar=VCV000971026; Zygosity=Heterozygous (PubMed=30685614).
CC   Sequence variation: Mutation; HGNC; 8785; PDE6A; Simple; p.Leu423Ter (c.1268delT); Zygosity=Heterozygous (PubMed=30685614).
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,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,12
ST   D16S539: 12,13
ST   D18S51: 14,17
ST   D21S11: 32.2,33.2
ST   D3S1358: 14,17
ST   D5S818: 11,13
ST   D7S820: 8,11
ST   D8S1179: 11
ST   FGA: 20,21
ST   Penta D: 11,12
ST   Penta E: 8,11
ST   TH01: 6,9.3
ST   TPOX: 8,10
ST   vWA: 15,18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 11
//
RX   PubMed=30685614; DOI=10.1016/j.scr.2019.101385;
RA   Riera M., Patel A.L., Corcostegui B., Chang S., Sparrow J.R.,
RA   Pomares E., Corneo B.;
RT   "Establishment and characterization of an iPSC line (FRIMOi001-A)
RT   derived from a retinitis pigmentosa patient carrying PDE6A
RT   mutations.";
RL   Stem Cell Res. 35:101385-101385(2019).
//