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

Stem Cell Research · Published 2026-07-22 · DOI 10.1016/j.scr.2026.104066

Free full text

Authors (5)

Nayeon Lee, Tae-Yun Kim, Hyunki Jang, Na-Yeon Jung, Jae-Hyeok Lee

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year

2026

Citation

Lee, N., Kim, T., Jang, H., et al. (2026). 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. Stem Cell Research. https://doi.org/10.1016/j.scr.2026.104066

Related articles

• Generation of iPSC and isogenic gene-corrected lines from a patient with Shwachman Diamond syndrome · Stem Cell Research · 2026 · Same journal
• Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi021-A) from a healthy donor for disease modeling · Stem Cell Research · 2026 · Same journal
• Generation of FCGR3A-EGFP knock-in reporter human embryonic stem cell line, WAe001-A-3S, using CRISPR/Cas9n-based gene targeting · Stem Cell Research · 2026 · Same journal
• Generation of a patient-derived iPSC line from a clinically diagnosed MELAS case carrying the mtDNA m.3243A > G variant · Stem Cell Research · 2026 · Same journal
• Generation of the mouse ESC line from NOD-scid gamma mouse · Stem Cell Research · 2026 · Same journal
• 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 · Stem Cell Research · 2026 · Same journal
• 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 · Stem Cell Research · 2026 · Same journal
• 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 · Stem Cell Research · 2026 · Same journal
• Engineering STRAIGHT-IN single and dual lines in the male iPS11 parental line for programmable DNA integration · Stem Cell Research · 2026 · Same journal
• Generation of integration-free induced pluripotent stem cell line (KSCBi024-A) from patients with down syndrome · Stem Cell Research · 2026 · Same journal