Cellosaurus cell line FRIMOi003-A (CVCL

Cellosaurus FRIMOi003-A (CVCL_UM41)

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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; HGNC:34; ABCA4; Simple; c.4253+4C>T; ClinVar=VCV000099266; Zygosity=Heterozygous (PubMed=30798147).
Mutation; HGNC; 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:

Amelogenin	X
CSF1PO	11,12
D3S1358	16
D5S818	9,13
D7S820	11
D8S1179	14
D13S317	8,12
D16S539	10,11
D18S51	13,16
D21S11	30
FGA	19,22
Penta D	10,13
Penta E	11,13
TH01	9,9.3
TPOX	9,10
vWA	14,19

Web pages

Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Solicitud%2520deposito_STGD1_FiPS4F1.5-v2.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXOS%2520STGD1_FiPS4F1.5-v2.pdf

Publications

PubMed=30798147; DOI=10.1016/j.scr.2019.101389; PMCID=PMC6668028
Marina Riera, Achchhe L. Patel, Anniken Bures-Jelstrup, Borja Corcostegui, Stanley Chang, Esther Pomares, Barbara Corneo, Janet R. Sparrow;
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 creation

25-Feb-2019

Last entry update

10-Apr-2025

Version number