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Your search keyword '"Gallardo ME"' showing total 14 results

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14 results on '"Gallardo ME"'

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1. Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.

2. Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

3. Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A.

4. Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.

5. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

6. Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup.

7. Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

8. Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.

9. Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.

10. Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

11. Generation of a human control iPSC line with a European mitochondrial haplogroup U background.

12. Generation of a human iPSC line from a patient with Leigh syndrome.

13. Generation of a human iPSC line from a patient with a defect of intergenomic communication.

14. Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

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