ID   ITXi013-A
AC   CVCL_E8Y9
SY   PT-R406W
DR   BioSamples; SAMEA115125141
DR   hPSCreg; ITXi013-A
RX   PubMed=38522388;
CC   From: Institut du Thorax; Nantes; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2770; DES; Simple; p.Arg406Trp (c.1216C>T); ClinVar=VCV000016826; Zygosity=Heterozygous (PubMed=38522388).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206515; Myofibrillar myopathy 1
DI   ORDO; Orphanet_98909; Desminopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
CH   CVCL_E8YA ! ITXi013-B
//
RX   PubMed=38522388; DOI=10.1016/j.scr.2024.103396;
RA   Geryk, Michelle
RA   Canac, Robin
RA   Forest, Virginie
RA   Lindenbaum, Pierre
RA   Girardeau, Aurore
RA   Baudic, Manon
RA   Baron, Estelle
RA   Bibonne, Anne
RA   Chariau, Caroline
RA   Kyndt, Florence
RA   Redon, Richard
RA   Schott, Jean-Jacques
RA   Gourraud, Jean-Baptiste
RA   Barc, Julien
RA   Charpentier, Flavien
RT   "Generation of a patient-specific induced pluripotent stem cell line
RT   carrying the DES p.R406W mutation, an isogenic control and a DES
RT   p.R406W knock-in line.";
RL   Stem Cell Res. 77:103396-103396(2024).
//