A human iPSC line carrying a de novo PHF21A variant was generated from an infant with epileptic spasms syndrome, providing a new model for studying the disease.
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Stem cell research
Elsevier BV · Cell & Molecular Biology · ISSN 1873-5061, 1876-7753
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A doxycycline-inducible p16 INK4a knock-in human embryonic stem cell line was established, showing dose-dependent p16 INK4a and ZsGreen expression upon induction.
- Open access
Two human iPSC lines modeling mucopolysaccharidosis types IIIA and I with specific pathogenic variants were generated from KOLF2.1J cells.
- Open access
CRISPR/Cas9 editing successfully corrected the LRRK2 I1371V mutation in a Parkinson's disease patient-derived iPSC line, creating an isogenic control line with confirmed genetic integrity.
- Open access
A human iPSC line from a SPG46 patient with compound heterozygous GBA2 variants was successfully generated and characterized.
- Open access
Adenine base editing successfully generated a PKP2 c.1171-2 A>G mutant human embryonic stem cell line, WAe009-A-3W, with preserved pluripotency and normal karyotype.
- Open access
Inducible hiPSC lines with controlled Progerin expression enable modeling of cellular aging, with successful integration confirmed by PCR and sequencing.
- Open access
A human iPSC line from a male HCM patient with a heterozygous TPM1 c.644C>T mutation exhibits normal karyotype and differentiation potential.
- Open access
CRISPR/Cas9 editing created a Brachyury/TBXT-2A-EGFP reporter line in human embryonic stem cells, enabling real-time monitoring of mesodermal differentiation.
- Open access
A human iPSC line from an asymptomatic woman carrying the GAA c.2051C>A (p.P684Q) variant was successfully generated, exhibiting typical stem cell features and differentiation capacity.
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Two human iPSC lines reprogrammed from adult bone marrow MSCs are genomically stable and can differentiate into the three germ layers.
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Two iPSC lines from ALS patients with mutations in SQSTM1 and TBK1 genes were successfully established and characterized.
- Open access
Thirteen high-quality iPSC clones from PBMCs of five donors were generated and extensively characterized using non-integrating Sendai virus.
- Open access
Two iPSC lines with FTSJ1 frameshift mutations were created, maintaining pluripotency and differentiation capacity, to model X-linked non-syndromic intellectual disability.
- Open access
A human induced pluripotent stem cell line from an arrhythmogenic cardiomyopathy patient with DSG2 c.2358delA variant was successfully generated and characterized.
- Open access
A family with heterozygous RPS19 mutation yielded four iPSC lines representing healthy, silent carrier, and DBA individuals, enabling disease modeling.
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Two induced pluripotent stem cell lines from hereditary hemorrhagic telangiectasia patients with ACVRL1 mutations were successfully generated and characterized.
- Open access
CRISPR-Cas9 corrected the KRT5 p.E475G mutation in a human iPSC line from an epidermolysis bullosa simplex patient, restoring the wild-type sequence without off-target effects.
- Open access
Gene editing created isogenic USH2A-RP patient-derived iPSC lines with both homozygous and heterozygous corrections of the c.2276G > T mutation.
- Open access
CRISPR/Cpf1 editing of DNM1L in human iPSCs produces a mutant line with normal morphology, stability, and differentiation capacity.
- Open access
A human induced pluripotent stem cell line from a Kabuki syndrome 1 patient with a frameshift KMT2D mutation was established, enabling disease modeling.
- Open access
Two human iPSC lines from HypoPP patients carrying the CACNA1S c.1583G>A (p.Arg528His) mutation were generated and characterized for research use.
- Open access
A new iPSC line from a 70-year-old patient with double primary lung and colon cancers maintains normal karyotype and differentiation capacity.
- Open access
A human induced pluripotent stem cell line from a nephronophthisis patient with NPHP4 variants exhibits pluripotency and differentiation capacity.
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Eleven high-quality human iPSC clones from four donors were generated and extensively validated for genetic stability and pluripotency.
- Open access
An induced pluripotent stem cell line from a long QT syndrome type 1 patient with the KCNQ1 c.343G > A p.(E115K) variant was successfully generated, maintaining normal cellular characteristics.
- Open access
Three induced pluripotent stem cell lines were generated from an immune checkpoint inhibitor-induced myocarditis patient, an ICI-treated patient without myocarditis, and a healthy donor.
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- Nat Commun161
- Science141
- Nature138
- Lancet128
- Cell Rep120
- NEJM119
- mBio107
- Plant Cell Environ107
- Curr Biol106
- J Exp Bot106
Topics moving, week to 23 Oct 2026
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- Alzheimer's disease research and treatments3
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