ID   HPS2887
AC   CVCL_A3KD
DR   RCB; HPS2887
DR   Wikidata; Q105508976
CC   Sequence variation: Mutation; HGNC; HGNC:7448; MTM1; Unexplicit; Not described; Zygosity=Hemizygous (RCB=HPS2887).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118781; X-linked centronuclear myopathy
DI   ORDO; Orphanet_596; X-linked centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A3JY ! HPS2882
OI   CVCL_A3JZ ! HPS2883
OI   CVCL_A3KA ! HPS2884
OI   CVCL_A3KB ! HPS2885
OI   CVCL_A3KC ! HPS2886
SX   Male
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
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