ID   IMAGINi020-A
AC   CVCL_C1Q7
SY   IMAGINE020; IMAGINE020c24
DR   BioSamples; SAMEA110424191
DR   hPSCreg; IMAGINi020-A
DR   Wikidata; Q114311727
RX   PubMed=35575086;
RX   PubMed=36868038;
CC   From: Imagine Institute; Paris; France.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:30594; UNC45A; Simple; p.Leu237Pro (c.710T>C); ClinVar=VCV000978046; Zygosity=Homozygous (PubMed=36868038).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201597; Osteootohepatoenteric syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=36868038; DOI=10.1016/j.scr.2023.103057;
RA   Banal, Celine
RA   Quelennec, Eddy
RA   Talbotec, Cecile
RA   Khiat, Anis
RA   Charbit-Henrion, Fabienne
RA   Cerf-Bensussan, Nadine
RA   Lefort, Nathalie
RA   Lebreton, Corinne
RT   "Generation of induced pluripotent stem cells (iPSCs) from a
RT   microvillus inclusion disease patient with a homozygous missense
RT   mutation in UNC45A.";
RL   Stem Cell Res. 68:103057-103057(2023).
//
RX   PubMed=35575086; DOI=10.1172/JCI154997; PMCID=PMC9106349;
RA   Duclaux-Loras, Remi
RA   Lebreton, Corinne
RA   Berthelet, Jeremy
RA   Charbit-Henrion, Fabienne
RA   Nicolle, Ophelie
RA   Revenu des Courtils, Celine
RA   Waich, Stephanie
RA   Valovka, Taras
RA   Khiat, Anis
RA   Rabant, Marion
RA   Racine, Caroline
RA   Guerrera, Ida Chiara
RA   Baptista, Julia
RA   Mahe, Maxime M.
RA   Hess, Michael W.
RA   Durel, Beatrice
RA   Lefort, Nathalie
RA   Banal, Celine
RA   Parisot, Melanie
RA   Talbotec, Cecile
RA   Lacaille, Florence
RA   Ecochard-Dugelay, Emmanuelle
RA   Demir, Arzu Meltem
RA   Vogel, Georg F.
RA   Faivre, Laurence
RA   Rodrigues, Astor
RA   Fowler, Darren
RA   Janecke, Andreas R.
RA   Muller, Thomas
RA   Huber, Lukas Alfons
RA   Rodrigues-Lima, Fernando
RA   Ruemmele, Frank M.
RA   Uhlig, Holm H.
RA   Del Bene, Filippo
RA   Michaux, Gregoire
RA   Cerf-Bensussan, Nadine
RA   Parlato, Marianna
RT   "UNC45A deficiency causes microvillus inclusion disease-like phenotype
RT   by impairing myosin VB-dependent apical trafficking.";
RL   J. Clin. Invest. 132:e154997.1-e154997.12(2022).
//