ID   GM17881
AC   CVCL_0R46
DR   CLO; CLO_0016143
DR   Coriell; GM17881
DR   Wikidata; Q54849297
CC   Population: Caucasian; Flemish.
CC   Sequence variation: Mutation; HGNC; HGNC:18817; HPS6; Simple; p.Leu572Alafs*40 (c.1714_1717delCTGT); ClinVar=VCV000003151; Zygosity=Homozygous (Coriell=GM17881).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150369; Hermansky-Pudlak syndrome 6
DI   ORDO; Orphanet_231512; Hermansky-Pudlak syndrome without pulmonary fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
//