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Cellosaurus FRIMOi003-A (CVCL_UM41)

[Text version]
Cell line name FRIMOi003-A
Synonyms STGD1_FiPS4F1.5; STGD_1
Accession CVCL_UM41
Resource Identification Initiative To cite this cell line use: FRIMOi003-A (RRID:CVCL_UM41)
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 34; ABCA4; Simple; c.4253+4C>T; ClinVar=VCV000099266; Zygosity=Heterozygous (PubMed=30798147).
  • Mutation; HGNC; 34; ABCA4; Simple; p.Arg2030Gln (c.6089G>A); ClinVar=VCV000099428; Zygosity=Heterozygous (PubMed=30798147).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO11,12
D3S135816
D5S8189,13
D7S82011
D8S117914
D13S3178,12
D16S53910,11
D18S5113,16
D21S1130
FGA19,22
Penta D10,13
Penta E11,13
TH019,9.3
TPOX9,10
vWA14,19

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/157/Caracteristicas%20-%20Solicitud%20deposito_STGD1_FiPS4F1.5-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/157/Anexo%20-%20ANEXOS%20STGD1_FiPS4F1.5-v2.pdf
Publications

PubMed=30798147; DOI=10.1016/j.scr.2019.101389
Riera M., Patel A.L., Bures-Jelstrup A., Corcostegui B., Chang S., Pomares E., Corneo B., Sparrow J.R.
Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.
Stem Cell Res. 36:101389-101389(2019)

Cross-references
Cell line databases/resources hPSCreg; FRIMOi003-A
Biological sample resources BioSamples; SAMEA7352793
Encyclopedic resources Wikidata; Q93556544
Entry history
Entry creation25-Feb-2019
Last entry update30-Jan-2024
Version number12