ID   GM13958
AC   CVCL_0R43
DR   CLO; CLO_0033844
DR   Coriell; GM13958
DR   Wikidata; Q54846949
CC   Sequence variation: Mutation; HGNC; HGNC:5163; HPS1; Simple; p.Gln397Serfs*2 (c.1189delC); ClinVar=VCV000021091; Zygosity=Homozygous (Coriell=GM13958).
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   7Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
//