ID   CHOPHPS2
AC   CVCL_DQ89
DR   Wikidata; Q54813222
RX   PubMed=27345985;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Arg509Ter (c.1525C>T); ClinVar=VCV000006377; Zygosity=Heterozygous (PubMed=27345985).
CC   Sequence variation: Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Glu659Ter (c.1975G>T); ClinVar=VCV000006378; Zygosity=Heterozygous (PubMed=27345985).
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)
HI   CVCL_0R47 ! GM17890
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
//
RX   PubMed=27345985; DOI=10.1016/j.scr.2016.01.015;
RA   Maguire J.A., Lu L., Mills J.A., Sullivan L.M., Gadue P., French D.L.;
RT   "Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced
RT   pluripotent stem cells (iPSCs).";
RL   Stem Cell Res. 16:287-289(2016).
//