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Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts.

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  • معلومة اضافية
    • بيانات النشر:
      Elsevier
    • الموضوع:
      2023
    • الموضوع:
    • نبذة مختصرة :
      Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a hereditary neurodegenerative disease caused by mutations in the FA2H gene. Patients show a wide range of neurological symptoms and an abnormal myelination. Here we describe the generation of the human induced pluripotent stem cell (hiPSC) lines AKOSi011-A and AKOSi012-A, derived from FAHN-patient fibroblasts, carrying the compound heterozygous mutation p.Pro65Ser/p.Asp35Tyr and the homozygous mutation p.Tyr231His, respectively. The hiPSC lines were generated using a non-integrating Sendai virus. The obtained hiPSCs show an unobtrusive karyotype, carry the mutations of the original fibroblasts, express pluripotency markers and can differentiate into cells of the three germ layers.
    • Relation:
      info:eu-repo/semantics/altIdentifier/issn/1873-5061; info:eu-repo/semantics/altIdentifier/issn/1876-7753; info:eu-repo/semantics/altIdentifier/pmid/pmid:37573804; https://pub.dzne.de/record/263805; https://pub.dzne.de/search?p=id:%22DZNE-2023-00891%22
    • الدخول الالكتروني :
      https://pub.dzne.de/record/263805
      https://pub.dzne.de/search?p=id:%22DZNE-2023-00891%22
    • Rights:
      info:eu-repo/semantics/openAccess
    • الرقم المعرف:
      edsbas.6FD884A5