ID   HAX1W44X-iPSC
AC   CVCL_A4HL
DR   SKIP; SKIP003023
DR   Wikidata; Q105507550
RX   PubMed=29296734;
CC   Sequence variation: Mutation; HGNC; HGNC:16915; HAX1; Simple; p.Trp44Ter (c.130_131insA); ClinVar=VCV000004651; Zygosity=Homozygous (PubMed=29296734).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C166153; Severe congenital neutropenia type 3, autosomal recessive
DI   ORDO; Orphanet_99749; Kostmann syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=29296734; DOI=10.1182/bloodadvances.2016003798; PMCID=PMC5737589;
RA   Pittermann E., Lachmann N., MacLean G.A., Emmrich S., Ackermann M.,
RA   Gohring G., Schlegelberger B., Welte K., Schambach A., Heckl D.,
RA   Orkin S.H., Cantz T., Klusmann J.-H.;
RT   "Gene correction of HAX1 reversed Kostmann disease phenotype in
RT   patient-specific induced pluripotent stem cells.";
RL   Blood Adv. 1:903-914(2017).
//