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Cellosaurus FRIMOi004-A (CVCL_UM42)

[Text version]
Cell line name FRIMOi004-A
Synonyms STGD2_FiPS4F1.7; STGD_2
Accession CVCL_UM42
Resource Identification Initiative To cite this cell line use: FRIMOi004-A (RRID:CVCL_UM42)
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:34; ABCA4; Simple; p.Gly172Ser (c.514G>A); ClinVar=VCV000099347; Zygosity=Heterozygous (PubMed=30798147).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Val675Ile (c.2023G>A); ClinVar=VCV000288341; Zygosity=Heterozygous (PubMed=30798147).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Ser1071Cysfs*14 (c.3210_3211dupGT) (c.3211_3212insGT); ClinVar=VCV000372290; Zygosity=Heterozygous (PubMed=30798147).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Val2050Leu (c.6148G>C); ClinVar=VCV000007884; 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 Male
Age at sampling 20Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,12
D3S135815,19
D5S81812
D7S82010,11
D8S117913,14
D13S31712,13
D16S5399,12
D18S5113,16
D21S1130,31.2
FGA17,22
Penta D14
Penta E11,15
TH019,9.3
TPOX10,11
vWA15,17

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/158/Caracteristicas%20-%20solicitud_STGD2_FiPS4F1.7%20_v3.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/158/Anexo%20-%20ANEXOS%20STGD2_FiPS4F1.7_v2.pdf
Publications

PubMed=30798147; DOI=10.1016/j.scr.2019.101389; PMCID=PMC6668028
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; FRIMOi004-A
Biological sample resources BioSamples; SAMEA7352795
Encyclopedic resources Wikidata; Q93556548
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number14