Disease-specific induced pluripotent stem cells.
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.
32 references, click to expand
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10544-7 PMID: 1961718
-
The four ages of Down syndrome.Eur J Public Health. 2007 Apr;17(2):221-5 PMID: 16857692
-
Teratoma formation assays with human embryonic stem cells: a rationale for one type of human-animal chimera.Cell Stem Cell. 2007 Sep 13;1(3):253-8 PMID: 18371359
-
Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia.Nat Genet. 1996 Apr;12(4):448-51 PMID: 8630504
-
Chromosome 21 and down syndrome: from genomics to pathophysiology.Nat Rev Genet. 2004 Oct;5(10):725-38 PMID: 15510164
-
Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells.Cell. 1987 Nov 6;51(3):503-12 PMID: 2822260
-
Generation of human-induced pluripotent stem cells.Nat Protoc. 2008;3(7):1180-6 PMID: 18600223
-
Mutations in the SBDS gene in acquired aplastic anemia.Blood. 2007 Aug 15;110(4):1141-6 PMID: 17478638
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.Nucleic Acids Res. 1988 Dec 9;16(23):11141-56 PMID: 3205741
-
The art and design of genetic screens: mammalian culture cells.Nat Rev Genet. 2004 Mar;5(3):179-89 PMID: 14970820
-
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease.Hum Mol Genet. 1993 Jun;2(6):637 PMID: 8353483
-
Human embryonic stem cell derivation from poor-quality embryos.Nat Biotechnol. 2008 Feb;26(2):212-4 PMID: 18223642
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors.Cell. 2007 Nov 30;131(5):861-72 PMID: 18035408
-
Differentiation of embryonic stem cells to clinically relevant populations: lessons from embryonic development.Cell. 2008 Feb 22;132(4):661-80 PMID: 18295582
-
A chromosome 21 critical region does not cause specific Down syndrome phenotypes.Science. 2004 Oct 22;306(5696):687-90 PMID: 15499018
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.Hum Genet. 1990 Nov;86(1):45-8 PMID: 2253937
-
Reprogramming of human somatic cells to pluripotency with defined factors.Nature. 2008 Jan 10;451(7175):141-6 PMID: 18157115
-
Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse.Cell Stem Cell. 2008 Mar 6;2(3):230-40 PMID: 18371448
-
The Shwachman-Diamond SBDS protein localizes to the nucleolus.Blood. 2005 Aug 15;106(4):1253-8 PMID: 15860664
-
Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model.Nat Neurosci. 2007 May;10(5):608-14 PMID: 17435754
-
Generation of human induced pluripotent stem cells from dermal fibroblasts.Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2883-8 PMID: 18287077
-
Correction of a genetic defect by nuclear transplantation and combined cell and gene therapy.Cell. 2002 Apr 5;109(1):17-27 PMID: 11955443
-
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.Proc Natl Acad Sci U S A. 1983 Jul;80(13):4035-9 PMID: 6306659
-
Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.Hum Mutat. 1993;2(4):320-3 PMID: 8401541
-
Human embryonic stem cell lines with genetic disorders.Reprod Biomed Online. 2005 Jan;10(1):105-10 PMID: 15705304
-
Targetted correction of a mutant HPRT gene in mouse embryonic stem cells.Nature. 1987 Dec 10-16;330(6148):576-8 PMID: 3683574
-
Sequential expression of pluripotency markers during direct reprogramming of mouse somatic cells.Cell Stem Cell. 2008 Feb 7;2(2):151-9 PMID: 18371436
-
Targeted mutation of the Hprt gene in mouse embryonic stem cells.Proc Natl Acad Sci U S A. 1988 Nov;85(22):8583-7 PMID: 3186749
-
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.J Mol Diagn. 2005 Aug;7(3):317-26 PMID: 16049303
-
Induced pluripotent stem cell lines derived from human somatic cells.Science. 2007 Dec 21;318(5858):1917-20 PMID: 18029452
-
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.Hum Mol Genet. 1997 Feb;6(2):301-9 PMID: 9063751
-
Genetics. The critical region in trisomy 21.Science. 2004 Oct 22;306(5696):619-21 PMID: 15499000
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