Cellosaurus cell line CHB-13 (CVCL

Cross-references
Cell line name	CHB-13
Accession	CVCL_A824
Resource Identification Initiative	To cite this cell line use: CHB-13 (RRID:CVCL_A824)
Comments	From: Children's Hospital Boston; Boston; USA. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:5961; IKBKG; Simple; p.Leu153Arg (c.458T>G) (T458G); ClinVar=VCV000011460; Zygosity=Hemizygous (PubMed=22284529).
Disease	Ectodermal dysplasia and immunodeficiency (NCIt: C118844) Hypohidrotic ectodermal dysplasia with immunodeficiency (ORDO: Orphanet_98813)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=22284529; DOI=10.1016/j.scr.2011.12.007 Guan X., Yabuuchi A., Huo H.-G., Ginsburg E., Racowsky C., Daley G.Q., Lerou P.H. Derivation of human embryonic stem cells with NEMO deficiency. Stem Cell Res. 8:410-415(2012)
Encyclopedic resources	Wikidata; Q54811745
Entry history
Entry creation	06-Jun-2012
Last entry update	19-Dec-2024
Version number	18