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Cellosaurus IMAGINi020-A (CVCL_C1Q7)

[Text version]
Cell line name IMAGINi020-A
Synonyms IMAGINE020; IMAGINE020c24
Accession CVCL_C1Q7
Resource Identification Initiative To cite this cell line use: IMAGINi020-A (RRID:CVCL_C1Q7)
Comments From: Imagine Institute; Paris; France.
Population: Turkish.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
Disease Osteootohepatoenteric syndrome (NCIt: C201597)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=35575086; DOI=10.1172/JCI154997
Duclaux-Loras R., Lebreton C., Berthelet J., Charbit-Henrion F., Nicolle O., Revenu des Courtils C., Waich S., Valovka T., Khiat A., Rabant M., Racine C., Guerrera I.C., Baptista J., Mahe M.M., Hess M.W., Durel B., Lefort N., Banal C., Parisot M., Talbotec C., Lacaille F., Ecochard-Dugelay E., Demir A.M., Vogel G.F., Faivre L., Rodrigues A., Fowler D., Janecke A.R., Muller T., Huber L.A., Rodrigues-Lima F., Ruemmele F.M., Uhlig H.H., Del Bene F., Michaux G., Cerf-Bensussan N., Parlato M.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J. Clin. Invest. 132:e154997.1-e154997.12(2022)

PubMed=36868038; DOI=10.1016/j.scr.2023.103057
Banal C., Quelennec E., Talbotec C., Khiat A., Charbit-Henrion F., Cerf-Bensussan N., Lefort N., Lebreton C.
Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.
Stem Cell Res. 68:103057-103057(2023)

Cross-references
Cell line databases/resources hPSCreg; IMAGINi020-A
Biological sample resources BioSamples; SAMEA110424191
Encyclopedic resources Wikidata; Q114311727
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number4