کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2094285 | 1082000 | 2012 | 6 صفحه PDF | دانلود رایگان |
Deficiency of the nuclear factor-kappa-B essential modulator (NEMO) is a rare X-linked disorder that presents in boys as hypohydrotic ectodermal dysplasia with immunodeficiency due to defective nuclear factor-κB activation. Here we report on the generation of 2 human embryonic stem cell lines from discarded in vitro fertilization (IVF) embryos ascertained via preimplantation genetic diagnosis. We have derived two human embryonic stem cell lines that carry a T458G hypomorphic mutation in exon 4 of the NEMO (or IKBKG) gene. One of the lines is diploid male; the other is diploid female but has clonally inactivated the X-chromosome that harbors the wild-type IKBKG gene. We show that both lines are pluripotent, have the capacity to differentiate into hematopoietic progenitors, and have defective inhibitor of nuclear factor kappa-B kinase activity. These NEMO deficiency hES cell lines provide an unlimited source for differentiated cell types and may serve as a unique tool to study NEMO deficiency and potentially lead to the development of new therapies for this disease.
► We generated two hES cell lines from discarded IVF embryos.
► Both hESC lines carry T458G mutation in the NEMO gene.
► NEMO deficient hES cells demonstrate robust differentiation capacity.
► NEMO deficient hES cells are defective in TNFα-induced IkBα degradation.
► Female line, CHB14, expresses only the mutant allele of NEMO gene.
Journal: Stem Cell Research - Volume 8, Issue 3, May 2012, Pages 410–415