Literature DB >> 33524672

Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6.

Philippa Harding1, Dulce Lima Cunha1, Cécile Méjécase2, Jonathan Eintracht1, Lyes Toualbi2, Hajrah Sarkar2, Mariya Moosajee3.   

Abstract

A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation in PAX6 c.372C>A, p.(Asn124Lys), validated in the fibroblasts through Sanger sequencing. Fibroblasts derived from a skin biopsy were reprogrammed using integration free episomal reprogramming. The established iPSC line was found to express pluripotency markers, exhibit differentiation potential in vitro and display a normal karyotype. This cell line will act as a tool for disease modelling of microphthalmia and aniridia, identification of therapeutic targets and drug screening.
Copyright © 2021. Published by Elsevier B.V.

Entities:  

Mesh：

Substances：

Year:  2021        PMID： 33524672      PMCID： PMC7957338          DOI： 10.1016/j.scr.2021.102184

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN： 1873-5061            Impact factor:   2.020


  5 in total

1.  Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction.

Authors:  Jian Ye; George Coulouris; Irena Zaretskaya; Ioana Cutcutache; Steve Rozen; Thomas L Madden
Journal:  BMC Bioinformatics       Date:  2012-06-18       Impact factor: 3.169

2.  DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly.

Authors:  Ilari Scheinin; Daoud Sie; Henrik Bengtsson; Mark A van de Wiel; Adam B Olshen; Hinke F van Thuijl; Hendrik F van Essen; Paul P Eijk; François Rustenburg; Gerrit A Meijer; Jaap C Reijneveld; Pieter Wesseling; Daniel Pinkel; Donna G Albertson; Bauke Ylstra
Journal:  Genome Res       Date:  2014-09-18       Impact factor: 9.043

3.  Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Authors:  David A Parfitt; Amelia Lane; Conor M Ramsden; Amanda-Jayne F Carr; Peter M Munro; Katarina Jovanovic; Nele Schwarz; Naheed Kanuga; Manickam N Muthiah; Sarah Hull; Jean-Marc Gallo; Lyndon da Cruz; Anthony T Moore; Alison J Hardcastle; Peter J Coffey; Michael E Cheetham
Journal:  Cell Stem Cell       Date:  2016-04-14       Impact factor: 24.633

4.  Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Authors:  Kathleen A Williamson; H Nikki Hall; Joseph A Marsh; David R FitzPatrick; Liusaidh J Owen; Benjamin J Livesey; Isabel M Hanson; G G W Adams; Simon Bodek; Patrick Calvas; Bruce Castle; Michael Clarke; Alexander T Deng; Patrick Edery; Richard Fisher; Gabriele Gillessen-Kaesbach; Elise Heon; Jane Hurst; Dragana Josifova; Birgit Lorenz; Shane McKee; Francoise Meire; Anthony T Moore; Michael Parker; Charlotte M Reiff; Jay Self; Edward S Tobias; Joke B G M Verheij; Marjolaine Willems; Denise Williams; Veronica van Heyningen
Journal:  Genet Med       Date:  2019-11-08       Impact factor: 8.822

Review 5.  The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Authors:  Dulce Lima Cunha; Gavin Arno; Marta Corton; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2019-12-17       Impact factor: 4.096
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.