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  1. Sep 2025
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of two human induced pluripotent stem cell lines from patient-derived fibroblasts with severe congenital defects of the vertebrae and neural tube
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    sciencedirect.com/science/article/pii/S1873506125001874
  3. May 2025
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
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    pmc.ncbi.nlm.nih.gov/articles/PMC12010153/
  5. Mar 2024
  6. www.sciencedirect.com www.sciencedirect.com
    Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines
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    sciencedirect.com/science/article/pii/S1873506124000722
  7. Sep 2023
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways
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    ncbi.nlm.nih.gov/pmc/articles/PMC10479865/
  9. Feb 2023
  10. www.sciencedirect.com www.sciencedirect.com
    Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1
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    sciencedirect.com/science/article/pii/S1873506123000338