ID   HPS1346
AC   CVCL_YQ59
DR   RCB; HPS1346
DR   Wikidata; Q94219647
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex49-50del; Zygosity=Hemizygous (RCB=HPS1346).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UN71 ! HPS1343
OI   CVCL_YQ57 ! HPS1344
OI   CVCL_YQ58 ! HPS1345
OI   CVCL_YQ60 ! HPS1347
OI   CVCL_YQ61 ! HPS1348
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
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