ID   HPS1351
AC   CVCL_YQ63
DR   RCB; HPS1351
DR   Wikidata; Q94219665
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex47-52del; Zygosity=Hemizygous (RCB=HPS1351).
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_UN72 ! HPS1349
OI   CVCL_YQ62 ! HPS1350
OI   CVCL_YQ64 ! HPS1352
OI   CVCL_YQ65 ! HPS1353
OI   CVCL_YQ66 ! HPS1354
SX   Male
AG   40-49Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
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