ID   FRIMOi006-A
AC   CVCL_XJ88
SY   BEST1_FiPS4F1
DR   BioSamples; SAMEA7352799
DR   hPSCreg; FRIMOi006-A
DR   Wikidata; Q93556554
RX   PubMed=31518904;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/178/Caracteristicas%20-%20solicitud_BEST1_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; 12703; BEST1; Simple; p.Pro77Ser (c.229C>T); Zygosity=Heterozygous (PubMed=31518904).
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: 11,13
ST   D16S539: 12,13
ST   D18S51: 14,16
ST   D19S433: 13
ST   D21S11: 29,31
ST   D2S1338: 18,23
ST   D3S1358: 16,18
ST   D5S818: 11
ST   D7S820: 8,12
ST   D8S1179: 13,14
ST   FGA: 24,26
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C118788; Vitelliform macular dystrophy
DI   ORDO; Orphanet_1243; Best vitelliform macular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 30-01-24; Version: 9
//
RX   PubMed=31518904; DOI=10.1016/j.scr.2019.101570;
RA   Domingo-Prim J., Riera M., Abad-Morales V., Ruiz-Nogales S.,
RA   Corcostegui B., Pomares E.;
RT   "Generation of Best disease-derived induced pluripotent stem cell line
RT   (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene.";
RL   Stem Cell Res. 40:101570-101570(2019).
//