Article
Characterization of UMi031-A-2 inducible pluripotent stem cell line with a neurofibromatosis type 2-associated mutation.
Stem cell research - 1 Aug 2021
Nourbakhsh Aida, Gosstola Nicholas C, Fernandez-Valle Cristina, Dykxhoorn Derek M, Liu Xue Zhong
Abstract excerpt
The UMi031-A-2 hiPSC line contains a CRISPR-induced homozygous, Neurofibromatosis Type 2 (NF2) mutation (L64P (CTG > CCG)) in the NF2 gene that encodes a merlin tumor suppressor. This line was generated from an unaffected iPSC line using CRISPR technology and characterized for pluripotency and karyotypic stability. The c.191 T > C variant in NF2 is associated with a syndromic nervous system tumor disorder leading...
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