ID   CHB-14
AC   CVCL_A825
DR   Wikidata; Q54811746
RX   PubMed=22284529;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:5961; IKBKG; Simple; p.Leu153Arg (c.458T>G) (T458G); ClinVar=VCV000011460; Zygosity=Unspecified (PubMed=22284529).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C118844; Ectodermal dysplasia and immunodeficiency
DI   ORDO; Orphanet_98813; Hypohidrotic ectodermal dysplasia with immunodeficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 18
//
RX   PubMed=22284529; DOI=10.1016/j.scr.2011.12.007;
RA   Guan X., Yabuuchi A., Huo H.-G., Ginsburg E., Racowsky C., Daley G.Q.,
RA   Lerou P.H.;
RT   "Derivation of human embryonic stem cells with NEMO deficiency.";
RL   Stem Cell Res. 8:410-415(2012).
//