ID   INSRMi012-A
AC   CVCL_C9DY
SY   PC173c1
DR   hPSCreg; INSRMi012-A
DR   Wikidata; Q123032707
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; 2770; DES; Simple; p.Asp214_Glu245del (c.735+3A>G); ClinVar=VCV000066419; Zygosity=Heterozygous (from autologous cell line INSRMi012-C).
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)
OI   CVCL_C9DZ ! INSRMi012-B
OI   CVCL_C9E0 ! INSRMi012-C
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
//