ID   FRIMOi004-A
AC   CVCL_UM42
SY   STGD2_FiPS4F1.7; STGD_2
DR   BioSamples; SAMEA7352795
DR   hPSCreg; FRIMOi004-A
DR   Wikidata; Q93556548
RX   PubMed=30798147;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/solicitud_STGD2_FiPS4F1.7%2520_v3.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXOS%2520STGD2_FiPS4F1.7_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; HGNC:34; ABCA4; Simple; p.Gly172Ser (c.514G>A); ClinVar=VCV000099347; Zygosity=Heterozygous (PubMed=30798147).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Val675Ile (c.2023G>A); ClinVar=VCV000288341; Zygosity=Heterozygous (PubMed=30798147).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Ser1071Cysfs*14 (c.3210_3211dupGT) (c.3211_3212insGT); ClinVar=VCV000372290; Zygosity=Heterozygous (PubMed=30798147).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Val2050Leu (c.6148G>C); ClinVar=VCV000007884; 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,Y
ST   CSF1PO: 10,12
ST   D13S317: 12,13
ST   D16S539: 9,12
ST   D18S51: 13,16
ST   D21S11: 30,31.2
ST   D3S1358: 15,19
ST   D5S818: 12
ST   D7S820: 10,11
ST   D8S1179: 13,14
ST   FGA: 17,22
ST   Penta D: 14
ST   Penta E: 11,15
ST   TH01: 9,9.3
ST   TPOX: 10,11
ST   vWA: 15,17
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 15
//
RX   PubMed=30798147; DOI=10.1016/j.scr.2019.101389; PMCID=PMC6668028;
RA   Riera, Marina
RA   Patel, Achchhe L.
RA   Bures-Jelstrup, Anniken
RA   Corcostegui, Borja
RA   Chang, Stanley
RA   Pomares, Esther
RA   Corneo, Barbara
RA   Sparrow, Janet 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).
//