ID   GM17890
AC   CVCL_0R47
DR   CLO; CLO_0016151
DR   Coriell; GM17890
DR   Wikidata; Q54849303
CC   Sequence variation: Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Arg509Ter (c.1525C>T); ClinVar=VCV000006377; Zygosity=Heterozygous (Coriell=GM17890).
CC   Sequence variation: Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Glu659Ter (c.1975G>T); ClinVar=VCV000006378; Zygosity=Heterozygous (Coriell=GM17890).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C150368; Hermansky-Pudlak syndrome 2
DI   ORDO; Orphanet_183678; Hermansky-Pudlak syndrome with neutropenia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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