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Cellosaurus FRIMOi002-A (CVCL_UM40)

[Text version]
Cell line name FRIMOi002-A
Synonyms RP2_FiPS4F2.2
Accession CVCL_UM40
Resource Identification Initiative To cite this cell line use: FRIMOi002-A (RRID:CVCL_UM40)
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; 12601; USH2A; Simple; p.Arg737Ter (c.2209C>T); ClinVar=VCV000002361; Zygosity=Heterozygous (PubMed=30685615).
  • Mutation; HGNC; 12601; USH2A; Simple; p.Tyr2898Ser (c.8693A>C); ClinVar=VCV000557316; Zygosity=Heterozygous (PubMed=30685615).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 63Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO10
D3S135815,16
D5S81811,13
D7S8208,10
D8S117912,15
D13S31710,11
D16S53911,13
D18S5113,14
D21S1131
FGA21,23
Penta D2.2,12
Penta E10,12
TH016,9
TPOX8
vWA14,17

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/156/Caracteristicas%20-%20Solicitud%20deposito_RP2_FiPS4F2.2-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/156/Anexo%20-%20ANEXOS%20RP2_FiPS4F2.2-v2.pdf
Publications

PubMed=30685615; DOI=10.1016/j.scr.2019.101386
Riera M., Patel A.L., Corcostegui B., Chang S., Corneo B., Sparrow J.R., Pomares E.
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.
Stem Cell Res. 35:101386-101386(2019)

Cross-references
Cell line databases/resources hPSCreg; FRIMOi002-A
Biological sample resources BioSamples; SAMEA7352791
Encyclopedic resources Wikidata; Q93556541
Entry history
Entry creation25-Feb-2019
Last entry update30-Jan-2024
Version number11