Cellosaurus cell line INMi002-A (CVCL

Cellosaurus INMi002-A (CVCL_UJ76)

[Text version]

Cell line name

INMi002-A

Synonyms

USH2A-USH-iPSC

Accession

CVCL_UJ76

Resource Identification Initiative

To cite this cell line use: INMi002-A (RRID:CVCL_UJ76)

Comments

From: Institute for Neurosciences of Montpellier; Montpellier; France.
Population: Caucasian.
Omics: Genomics; Whole exome sequencing.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Homozygous (PubMed=30468996).

Disease

Usher syndrome type 2 (NCIt: C126328)
Usher syndrome type 2 (ORDO: Orphanet_231178)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_YR33 (INMi002-A-1)

Sex of cell

Female

Age at sampling

59Y

Category

Induced pluripotent stem cell

Publications

PubMed=30468996; DOI=10.1016/j.scr.2018.11.007
Carla Sanjurjo-Soriano, Nejla Erkilic, Gael Manes, Gregor Dubois, Christian Paul Hamel, Isabelle Meunier, Vasiliki Kalatzis;
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.
Stem Cell Res. 33:247-250(2018)

PubMed=31909088; DOI=10.1016/j.omtm.2019.11.016; PMCID=PMC6938853
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian Paul Hamel, Isabelle Meunier, Anne-Francoise Roux, Vasiliki Kalatzis;
Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles.
Mol. Ther. Methods Clin. Dev. 17:156-173(2020)

Cross-references

Cell line databases/resources

hPSCreg; INMi002-A

Encyclopedic resources

Wikidata; Q94317989

Entry history

Entry creation

25-Feb-2019

Last entry update

10-Apr-2025

Version number