1. Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.
- Author
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Wang B, Yang L, Gao M, Zhang H, Ji A, Liu G, and Liu Y
- Subjects
- Humans, Male, Child, Preschool, Heterozygote, Nose pathology, Nose abnormalities, Cell Line, Exocrine Pancreatic Insufficiency genetics, Exocrine Pancreatic Insufficiency pathology, Deafness genetics, Deafness pathology, Cell Differentiation, Intellectual Disability genetics, Intellectual Disability pathology, Hypothyroidism, Pancreatic Diseases, Induced Pluripotent Stem Cells metabolism, Ubiquitin-Protein Ligases genetics, Growth Disorders genetics, Growth Disorders pathology, Hearing Loss, Sensorineural genetics, Hearing Loss, Sensorineural pathology, Ectodermal Dysplasia genetics, Ectodermal Dysplasia pathology, Mutation, Anus, Imperforate genetics, Anus, Imperforate pathology
- Abstract
Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 2-year-old boy with Johanson-Blizzard syndrome carrying a compound heterozygous mutation of c.3167C>G (p.S1056X) and c.1911 + 14C>G(splicing) in the UBR1 gene. This iPSC line was free of exogenous gene, expressed stemness markers, exhibited differentiation potential, had normal karyotype and harbored the same mutations found in the patient. The iPSC cellline can serve as a disease model in drug development and novel personalized therapies., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2024
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