ID   SANi006-A
AC   CVCL_A0JV
SY   PE2S.GPS38.cl6; GPS clone 6
DR   hPSCreg; SANi006-A
DR   Wikidata; Q108821260
RX   PubMed=34237592;
CC   From: Sanquin; Amsterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; 31928; NBEAL2; Simple; p.Cys2190Alafs*23 (c.6568delT); ClinVar=VCV000982280; Zygosity=Heterozygous (PubMed=34237592).
CC   Sequence variation: Mutation; HGNC; 31928; NBEAL2; Simple; p.Leu2646Pro (c.7937T>C); ClinVar=VCV000982281; Zygosity=Heterozygous (PubMed=34237592).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C84741; Gray platelet syndrome
DI   ORDO; Orphanet_721; Gray platelet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34237592; DOI=10.1016/j.scr.2021.102443;
RA   Aarts C.E.M., Varga E., Webbers S., Geissler J., von Lindern M.,
RA   Kuijpers T.W., van den Akker E.;
RT   "Generation and characterization of a human iPSC line SANi006-A from a
RT   Gray platelet syndrome patient.";
RL   Stem Cell Res. 55:102443-102443(2021).
//