Research map: Establishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene

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Papers in this map

  1. A more efficient method to generate integration-free human iPS cells · Keisuke Okita · 2011 · 2121 citations · Cited by this paper
  2. Generation of iPSC and isogenic gene-corrected lines from a patient with Shwachman Diamond syndrome · 2026 · Related
  3. The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects · Yoo‐Mi Kim · 2020 · 14 citations · Cited by this paper
  4. Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi021-A) from a healthy donor for disease modeling · 2026 · Related
  5. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy · Yoo‐Mi Kim · 2017 · 11 citations · Cited by this paper
  6. Generation of FCGR3A-EGFP knock-in reporter human embryonic stem cell line, WAe001-A-3S, using CRISPR/Cas9n-based gene targeting · 2026 · Related
  7. Gaucher disease: Different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family · Lara M. El-Zahabi · 2007 · 6 citations · Cited by this paper
  8. Generation of a patient-derived iPSC line from a clinically diagnosed MELAS case carrying the mtDNA m.3243A > G variant · 2026 · Related
  9. Generation of the mouse ESC line from NOD-scid gamma mouse · 2026 · Related
  10. Establishment of CRISPR/Cas9-edited LEMD2 knock-in (UKWCHFi001-B-1) and knock-out (UKWCHFi001-B-2) iPSC lines to investigate the mechanisms of LEMD2-associated cardiomyopathy · 2026 · Related
  11. Generation and characterization of human iPSC line SANi013-A from a Diamond-Blackfan anemia syndrome (DBAS) patient carrying a heterozygous RPS26 c.95–98 duplication variant · 2026 · Related
  12. Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A · 2026 · Related
  13. Engineering STRAIGHT-IN single and dual lines in the male iPS11 parental line for programmable DNA integration · 2026 · Related
  14. Generation of integration-free induced pluripotent stem cell line (KSCBi024-A) from patients with down syndrome · 2026 · Related

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