ID   HPS2387
AC   CVCL_A3QZ
DR   RCB; HPS2387
DR   Wikidata; Q105508673
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2387).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UP12 ! HPS2383
OI   CVCL_A3QW ! HPS2384
OI   CVCL_A3QX ! HPS2385
OI   CVCL_A3QY ! HPS2386
OI   CVCL_A3RA ! HPS2388
SX   Male
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//