Publication and References

Publications Highlighting Cell Line Genetics’ Services

Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson’s disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004)

Stem Cell Research. Volume 61, May 2022, 102765.

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Stem Cell Research. Volume 46, July 2020, 101823.

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

Stem Cell Research. Volume 44, April 2020, 101748.

Engineered human pluripotent-stem-cell-derived intestinal tissues with a functional enteric nervous system

Nat Med. 2017 Jan;23(1):49-59.

Generation of stem cell-derived β-cells from patients with type 1 diabetes

Nat Commun. 2016 May;10;7:11463.

Detailed Characterization of Human Induced Pluripotent Stem Cells Manufactured for Therapeutic Applications

Stem Cell Rev and Rep (2016) 12: 394.

Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures

DNA Res. 2015 Oct;22(5):331-42.

A comparison of non-integrating reprogramming methods

Nature Biotechnology. 2015 Jan;33(1):58-63.

Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells

Nature. 2014 Mar 6;507(7490):99-103.

Human oocytes reprogram adult somatic nuclei of a type 1 diabetic to diploid pluripotent stem cells

Nature. 2014 Apr 28.

Rapid and efficient conversion of integration-free human induced pluripotent stem cells to GMP-grade culture conditions

PLoS One. 2014 Apr 9;9(4)

Dynamic imaging of genomic loci in living human cells by an optimized CRISPR/Cas system

Cell. 2013 Dec 19;155(7):1479-91.

Somatic coding mutations in human induced pluripotent stem cells

Nature. 2011 Mar 3;471(7336):63-7.

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

Cell. 2011 Jul 8;146(1):37-52.

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome

PLoS One. 2011;6(10)

Our Publications

A pluripotent stem cell-based model for post-implantation human amniotic sac development

Nat Commun. 2017 Aug;8(1):208.

Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes

Stem Cell Res. 2012 Mar;8(2):154-64.

Chromosome 7 and 19 trisomy in cultured human neural progenitor cells

PLoS One. 2009 Oct 29. 4(10)

Protocols for cytogenetic studies of human embryonic stem cells

Methods. 2008 Jun;45(2):133-41.

Isolation and characterization of novel rhesus monkey embryonic stem cell lines

Stem Cells. 2006 Oct;24(10):2177-86.

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