ID   GM14609
AC   CVCL_0R45
DR   CLO; CLO_0031663
DR   Coriell; GM14609
DR   Wikidata; Q54847338
RX   PubMed=27345974;
CC   Population: Puerto Rican.
CC   Sequence variation: Mutation; HGNC; HGNC:5163; HPS1; Simple; p.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (Coriell=GM14609).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C150367; Hermansky-Pudlak syndrome 1
DI   ORDO; Orphanet_231500; Hermansky-Pudlak syndrome with pulmonary fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0R44 ! GM14606
SX   Female
AG   26Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
//
RX   PubMed=27345974; DOI=10.1016/j.scr.2016.01.014;
RA   Maguire J.A., Lu L., Mills J.A., Sullivan L.M., Gagne A.L., Gadue P.,
RA   French D.L.;
RT   "Generation of Hermansky-Pudlak syndrome type 1 (HPS1) induced
RT   pluripotent stem cells (iPSCs).";
RL   Stem Cell Res. 16:233-235(2016).
//