Biblio
Efficient designer nuclease-based homologous recombination enables direct PCR screening for footprintless targeted human pluripotent stem cells. Stem Cell Reports. 2014;2(1):107-18.
Establishment of MHHi001-A-5, a GCaMP6f and RedStar dual reporter human iPSC line for in vitro and in vivo characterization and in situ tracing of iPSC derivatives. Stem Cell Res. 2021;52:102206.
. European standard clinical practice - Key issues for the medical care of individuals with familial leukemia. Eur J Med Genet. 2023:104727.
GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia. Stem Cell Res. 2016;16(3):677-681.
. Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B. Stem Cell Res. 2019;36:101402.
. Generation of a CFTR knock-in reporter cell line (MHHi006-A-1) from a human induced pluripotent stem cell line. Stem Cell Res. 2019;40:101542.
. Generation of a NKX2.1 knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-2). Stem Cell Res. 2019;39:101492.
. Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. Stem Cell Res. 2019;37:101428.
. Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene. Stem Cell Res. 2021;57:102579.
. Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene. Stem Cell Res. 2021;57:102573.
. Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. Stem Cell Res. 2019;35:101398.
. Generation of pulmonary arterial hypertension patient-specific induced pluripotent stem cell lines from three unrelated patients with a heterozygous missense mutation in exon 12, a heterozygous in-frame deletion in exon 3 and a missense mutation in exon 1. Stem Cell Res. 2021;55:102488.
. Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)). Stem Cell Res. 2020;48:101988.
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene. Stem Cell Res. 2020;46:101850.
. Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene. Stem Cell Res. 2020;46:101848.
. Genetic instability of modified stem cells - a first step towards malignant transformation?. Am J Stem Cells. 2013;2(1):39-51.
. GMP-compatible manufacturing of three iPS cell lines from human peripheral blood. Stem Cell Res. 2019;35:101394.
. Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis. Stem Cell Res. 2020;43:101713.
. Impact of PPM1D Mutations in Patients with Myelodysplastic Syndrome and Deletion of Chromosome 5q. Am J Hematol. 2021.
Impaired formation of erythroblastic islands is associated with erythroid failure and poor prognosis in a significant proportion of patients with myelodysplastic syndromes. Haematologica. 2016.
. Induced pluripotent stem cell line (PEIi003-A) derived from an apparently healthy male individual. Stem Cell Res. 2019;42:101679.
. Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A). Stem Cell Res. 2019;41:101592.
. iPSC culture expansion selects against putatively actionable mutations in the mitochondrial genome. Stem Cell Reports. 2021.
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