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Cellosaurus FRIMOi001-A (CVCL_UM39)

[Text version]
Cell line name FRIMOi001-A
Synonyms RP1_FiPS4F1.6
Accession CVCL_UM39
Resource Identification Initiative To cite this cell line use: FRIMOi001-A (RRID:CVCL_UM39)
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; 8785; PDE6A; Simple; p.Arg102His (c.305G>A); ClinVar=VCV000971026; Zygosity=Heterozygous (PubMed=30685614).
  • Mutation; HGNC; 8785; PDE6A; Simple; p.Leu423Ter (c.1268delT); Zygosity=Heterozygous (PubMed=30685614).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,12
D3S135814,17
D5S81811,13
D7S8208,11
D8S117911
D13S3178,12
D16S53912,13
D18S5114,17
D21S1132.2,33.2
FGA20,21
Penta D11,12
Penta E8,11
TH016,9.3
TPOX8,10
vWA15,18

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/155/Caracteristicas%20-%20Solicitud%20deposito_RP1_FiPS4F1.6-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/155/Anexo%20-%20ANEXOS%20RP1_FiPS4F1.6-v2.pdf
Publications

PubMed=30685614; DOI=10.1016/j.scr.2019.101385
Riera M., Patel A.L., Corcostegui B., Chang S., Sparrow J.R., Pomares E., Corneo B.
Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations.
Stem Cell Res. 35:101385-101385(2019)

Cross-references
Cell line databases/resources hPSCreg; FRIMOi001-A
Biological sample resources BioSamples; SAMEA7340580
Encyclopedic resources Wikidata; Q93556539
Entry history
Entry creation25-Feb-2019
Last entry update30-Jan-2024
Version number11