ID   FRIMOi003-A
AC   CVCL_UM41
SY   STGD1_FiPS4F1.5; STGD_1
DR   BioSamples; SAMEA7352793
DR   hPSCreg; FRIMOi003-A
DR   Wikidata; Q93556544
RX   PubMed=30798147;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/157/Caracteristicas%20-%20Solicitud%20deposito_STGD1_FiPS4F1.5-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/157/Anexo%20-%20ANEXOS%20STGD1_FiPS4F1.5-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; 34; ABCA4; Simple; c.4253+4C>T; ClinVar=VCV000099266; Zygosity=Heterozygous (PubMed=30798147).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Arg2030Gln (c.6089G>A); ClinVar=VCV000099428; Zygosity=Heterozygous (PubMed=30798147).
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: 11,12
ST   D13S317: 8,12
ST   D16S539: 10,11
ST   D18S51: 13,16
ST   D21S11: 30
ST   D3S1358: 16
ST   D5S818: 9,13
ST   D7S820: 11
ST   D8S1179: 14
ST   FGA: 19,22
ST   Penta D: 10,13
ST   Penta E: 11,13
ST   TH01: 9,9.3
ST   TPOX: 9,10
ST   vWA: 14,19
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 12
//
RX   PubMed=30798147; DOI=10.1016/j.scr.2019.101389;
RA   Riera M., Patel A.L., Bures-Jelstrup A., Corcostegui B., Chang S.,
RA   Pomares E., Corneo B., Sparrow J.R.;
RT   "Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A)
RT   derived from Stargardt patients carrying ABCA4 compound heterozygous
RT   mutations.";
RL   Stem Cell Res. 36:101389-101389(2019).
//