ID   SANi009-A
AC   CVCL_A0JY
SY   PBL.HPS241.cl2; HPS2-90; HPS2 clone 2
DR   hPSCreg; SANi009-A
DR   Wikidata; Q108821263
RX   PubMed=34182253;
CC   From: Sanquin; Amsterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Lys59Asnfs*5 (c.177delA); ClinVar=VCV000224763; Zygosity=Heterozygous (PubMed=34182253).
CC   Sequence variation: Mutation; HGNC; HGNC:566; AP3B1; Simple; c.1839_1842delTAGA; ClinVar=VCV000224764; Zygosity=Heterozygous (PubMed=34182253).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150368; Hermansky-Pudlak syndrome 2
DI   ORDO; Orphanet_183678; Hermansky-Pudlak syndrome with neutropenia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34182253; DOI=10.1016/j.scr.2021.102444;
RA   Aarts C.E.M., Karampini E., Wust T., Webbers S., Varga E.,
RA   Geissler J., Voorberg J., von Lindern M., Bierings R.,
RA   van den Akker E., Kuijpers T.W.;
RT   "Generation and characterization of a control and patient-derived
RT   human iPSC line containing the Hermansky Pudlak type 2 (HPS2)
RT   associated heterozygous compound mutation in AP3B1.";
RL   Stem Cell Res. 54:102444-102444(2021).
//