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Generation of KCL029 research grade human embryonic stem cell line carrying a mutation in WAS gene

Research output: Contribution to journalArticle

Cristian Miere, Heema Hewitson, Victoria Wood, Neli Kadeva, Glenda Cornwell, Stefano Codognotto, Emma Stephenson, Dusko Ilic

Original languageEnglish
Pages (from-to)189-191
Number of pages3
JournalStem Cell Research
Volume16
Issue number1
Early online date5 Jan 2016
DOIs
Accepted/In press31 Dec 2015
E-pub ahead of print5 Jan 2016
PublishedJan 2016

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Abstract

The KCL029 human embryonic stem cell line was derived from an embryo donated for research that carried a c 814. T> C mutation in the WAS gene, which is linked to the Wiskott-Aldrich syndrome, a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia. The line is also carrier for a mutation p.N1152H in the gene encoding the cystic fibrosis transmembrane conductance regulator CFTR. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment. Pluripotent state and differentiation potential were confirmed by in vitro assays.

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