ID   INSRMi013-B
AC   CVCL_C9E2
SY   PC179c3
DR   hPSCreg; INSRMi013-B
DR   Wikidata; Q123032711
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:2770; DES; Simple; p.Ser46Tyr (c.137C>A); ClinVar=VCV000066405; Zygosity=Heterozygous (from autologous cell line INSRMi013-A).
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_C9E1 ! INSRMi013-A
OI   CVCL_C9E3 ! INSRMi013-C
SX   Male
AG   73Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//