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; 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: 05-10-23; Version: 4
//
RX   PubMed=35575086; DOI=10.1172/JCI154997;
RA   Duclaux-Loras R., Lebreton C., Berthelet J., Charbit-Henrion F.,
RA   Nicolle O., Revenu des Courtils C., Waich S., Valovka T., Khiat A.,
RA   Rabant M., Racine C., Guerrera I.C., Baptista J., Mahe M.M.,
RA   Hess M.W., Durel B., Lefort N., Banal C., Parisot M., Talbotec C.,
RA   Lacaille F., Ecochard-Dugelay E., Demir A.M., Vogel G.F., Faivre L.,
RA   Rodrigues A., Fowler D., Janecke A.R., Muller T., Huber L.A.,
RA   Rodrigues-Lima F., Ruemmele F.M., Uhlig H.H., Del Bene F., Michaux G.,
RA   Cerf-Bensussan N., Parlato M.;
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).
//
RX   PubMed=36868038; DOI=10.1016/j.scr.2023.103057;
RA   Banal C., Quelennec E., Talbotec C., Khiat A., Charbit-Henrion F.,
RA   Cerf-Bensussan N., Lefort N., Lebreton C.;
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).
//