ID   HPS2130
AC   CVCL_C9VX
DR   RCB; HPS2130
DR   Wikidata; Q123032050
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176900; Nonaka myopathy
DI   ORDO; Orphanet_602; GNE myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9VT ! HPS2126
OI   CVCL_C9VU ! HPS2127
OI   CVCL_C9VV ! HPS2128
OI   CVCL_C9VW ! HPS2129
OI   CVCL_C9VY ! HPS2131
SX   Female
AG   50-59Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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