ID   FRIMOi007-A
AC   CVCL_XJ80
SY   PDE6C_FiPS4F1
DR   BioSamples; SAMEA7352801
DR   hPSCreg; FRIMOi007-A
DR   Wikidata; Q93556558
RX   PubMed=31520890;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/solicitud_PDE6C_FiPS4F1_v2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXOS%2520PDE6C_FiPS4F1_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:8787; PDE6C; Simple; p.Arg557Gln (c.1670G>A); ClinVar=VCV002053050; Zygosity=Homozygous (PubMed=31520890).
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: 11,12
ST   D13S317: 13
ST   D16S539: 12
ST   D18S51: 14,16
ST   D19S433: 13
ST   D21S11: 28,30
ST   D2S1338: 19,24
ST   D3S1358: 15,16
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   D8S1179: 13,14
ST   FGA: 20,24
ST   TH01: 7,9.3
ST   TPOX: 8,9
ST   vWA: 14,18
DI   NCIt; C164226; Achromatopsia 5
DI   ORDO; Orphanet_49382; Achromatopsia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 11
//
RX   PubMed=31520890; DOI=10.1016/j.scr.2019.101569;
RA   Domingo-Prim, Judit
RA   Abad-Morales, Victor
RA   Riera, Marina
RA   Navarro, Rafael
RA   Corcostegui, Borja
RA   Pomares, Esther
RT   "Generation of an induced pluripotent stem cell line (FRIMOi007-A)
RT   derived from an incomplete achromatopsia patient carrying a novel
RT   homozygous mutation in PDE6C gene.";
RL   Stem Cell Res. 40:101569-101569(2019).
//