ID   HPS0313
AC   CVCL_VM57
DR   RCB; HPS0313
DR   Wikidata; Q94218697
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex45-50dup; Zygosity=Hemizygous (from autologous cell line HPS0312).
CC   Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
CC   Cell type: Fibroblast of skeletal muscle; CL=CL_0011027.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_6C86 ! HPS0312
OI   CVCL_VM58 ! HPS0314
OI   CVCL_UP82 ! HPS0315
OI   CVCL_UP83 ! HPS0316
SX   Male
AG   1Y2M
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 11
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