ID   GM12928
AC   CVCL_N198
SY   GM17079
DR   CLO; CLO_0014613
DR   CLO; CLO_0022924
DR   Coriell; GM12928
DR   Coriell; GM17079
DR   Wikidata; Q54846235
CC   Part of: Human variation panel.
CC   Population: Puerto Rican.
CC   Sequence variation: Mutation; HGNC; 5163; HPS1; Simple; p.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (Coriell=GM12928).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150367; Hermansky-Pudlak syndrome 1
DI   ORDO; Orphanet_231500; Hermansky-Pudlak syndrome with pulmonary fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 15
//