ID   HPS1339
AC   CVCL_A3SI
DR   RCB; HPS1339
DR   Wikidata; Q105507907
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex47-52del; Zygosity=Hemizygous (RCB=HPS1339).
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_UN70 ! HPS1337
OI   CVCL_A3SH ! HPS1338
OI   CVCL_A3SJ ! HPS1340
OI   CVCL_A3SK ! HPS1341
OI   CVCL_A3SL ! HPS1342
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
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