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Cellosaurus FRIMOi007-A (CVCL_XJ80)

[Text version]

Cell line name FRIMOi007-A
Synonyms PDE6C_FiPS4F1
Accession CVCL_XJ80
Resource Identification Initiative To cite this cell line use: FRIMOi007-A (RRID:CVCL_XJ80)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Fundacio de Recerca de l'Institut de Microcirurgia Ocular; Barcelona; Spain.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 8787; PDE6C; Simple; p.Arg557Gln (c.1670G>A); Zygosity=Homozygous (PubMed=31520890).
Disease Achromatopsia 5 (NCIt: C164226)
Achromatopsia (ORDO: Orphanet_49382)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 42Y
Category Induced pluripotent stem cell
STR profile Source(s): Spanish_Stem_Cell_Bank

Markers:
AmelogeninX,Y
CSF1PO11,12
D2S133819,24
D3S135815,16
D5S81811,12
D7S82010,11
D8S117913,14
D13S31713
D16S53912
D18S5114,16
D19S43313
D21S1128,30
FGA20,24
TH017,9.3
TPOX8,9
vWA14,18

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/179/Caracteristicas%20-%20solicitud_PDE6C_FiPS4F1_v2.pdf
Publications

PubMed=31520890; DOI=10.1016/j.scr.2019.101569
Domingo-Prim J., Abad-Morales V., Riera M., Navarro R., Corcostegui B., Pomares E.
Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene.
Stem Cell Res. 40:101569-101569(2019)

Cross-references
Cell line databases/resources hPSCreg; FRIMOi007-A
Biological sample resources BioSamples; SAMEA7352801
Other Wikidata; Q93556558
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5