ID   SANi007-A
AC   CVCL_A0JW
SY   PE2S.ELA239.cl9; ELA2 clone 9
DR   hPSCreg; SANi007-A
DR   Wikidata; Q108821261
RX   PubMed=34229202;
CC   From: Sanquin; Amsterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; HGNC:3309; ELANE; Simple; c.614delG; Zygosity=Heterozygous (PubMed=34229202).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
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=34229202; DOI=10.1016/j.scr.2021.102440;
RA   Aarts, Cathelijn E.M.
RA   Varga, Eszter
RA   Webbers, Steven
RA   Geissler, Judy
RA   von Lindern, Marieke
RA   Kuijpers, Taco W.
RA   van den Akker, Emile
RT   "Generation and characterization of a human iPSC line SANi007-A from a
RT   patient with a heterozygous dominant mutation in ELANE.";
RL   Stem Cell Res. 55:102440-102440(2021).
//