ID   MUNIi004-A
AC   CVCL_RL58
SY   DMD04
DR   hPSCreg; MUNIi004-A
DR   Wikidata; Q54907088
CC   From: Masaryk University; Brno; Czech Republic.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; c.2623-3C>G; ClinVar=VCV000217186; Zygosity=Hemizygous (hPSCreg=MUNIi004-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 8
//