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Cellosaurus FRIMOi006-A (CVCL_XJ88)

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Cell line name FRIMOi006-A
Synonyms BEST1_FiPS4F1
Accession CVCL_XJ88
Resource Identification Initiative To cite this cell line use: FRIMOi006-A (RRID:CVCL_XJ88)
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; HGNC:12703; BEST1; Simple; p.Pro77Ser (c.229C>T); Zygosity=Heterozygous (PubMed=31518904).
Disease Vitelliform macular dystrophy (NCIt: C118788)
Best vitelliform macular dystrophy (ORDO: Orphanet_1243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 35Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO11,12
D2S133818,23
D3S135816,18
D5S81811
D7S8208,12
D8S117913,14
D13S31711,13
D16S53912,13
D18S5114,16
D19S43313
D21S1129,31
FGA24,26
TH017,9
TPOX8
vWA16,17

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/solicitud_BEST1_FiPS4F1.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXOS%2520BEST1_FiPS4F1_V2.pdf
Publications

PubMed=31518904; DOI=10.1016/j.scr.2019.101570
Judit Domingo-Prim, Marina Riera, Victor Abad-Morales, Sheila Ruiz-Nogales, Borja Corcostegui, Esther Pomares;
Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene.
Stem Cell Res. 40:101570-101570(2019)

Cross-references
Cell line databases/resources hPSCreg; FRIMOi006-A
Biological sample resources BioSamples; SAMEA7352799
Encyclopedic resources Wikidata; Q93556554
Entry history
Entry creation19-Dec-2019
Last entry update10-Apr-2025
Version number11