ID   FRIMOi002-A
AC   CVCL_UM40
SY   RP2_FiPS4F2.2
DR   BioSamples; SAMEA7352791
DR   hPSCreg; FRIMOi002-A
DR   Wikidata; Q93556541
RX   PubMed=30685615;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/156/Caracteristicas%20-%20Solicitud%20deposito_RP2_FiPS4F2.2-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/156/Anexo%20-%20ANEXOS%20RP2_FiPS4F2.2-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; 12601; USH2A; Simple; p.Arg737Ter (c.2209C>T); ClinVar=VCV000002361; Zygosity=Heterozygous (PubMed=30685615).
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Tyr2898Ser (c.8693A>C); ClinVar=VCV000557316; Zygosity=Heterozygous (PubMed=30685615).
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
ST   D13S317: 10,11
ST   D16S539: 11,13
ST   D18S51: 13,14
ST   D21S11: 31
ST   D3S1358: 15,16
ST   D5S818: 11,13
ST   D7S820: 8,10
ST   D8S1179: 12,15
ST   FGA: 21,23
ST   Penta D: 2.2,12
ST   Penta E: 10,12
ST   TH01: 6,9
ST   TPOX: 8
ST   vWA: 14,17
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 11
//
RX   PubMed=30685615; DOI=10.1016/j.scr.2019.101386;
RA   Riera M., Patel A.L., Corcostegui B., Chang S., Corneo B., Sparrow J.R.,
RA   Pomares E.;
RT   "Generation of an induced pluripotent stem cell line (FRIMOi002-A)
RT   from a retinitis pigmentosa patient carrying compound heterozygous
RT   mutations in USH2A gene.";
RL   Stem Cell Res. 35:101386-101386(2019).
//