Generation of an induced pluripotent stem cell line, JHUi005-A, from a Marfan Syndrome patient harboring a pathogenic c.3338-2A>C intronic splicing variant
Summary
Marfan Syndrome, a connective tissue disorder caused by Fibrillin-1 (FBN1) gene mutations, induces disease in the ocular, musculoskeletal, and cardiovascular systems and increases aortic vulnerability to rupture associated with high mortality rates. We describe an induced pluripotent stem cell line (HFD1) generated from patient-derived human dermal fibroblasts harboring a heterozygous c.3338-2A>C intronic splice acceptor site variant preceding Exon 28 of FBN1. The clonal line, which produces abnormal FBN1 splice variants, has a normal karyotype, expresses appropriate stemness markers, and maintains trilineage differentiation potential. This line represents a valuable resource for studying how abnormal splicing variants contribute to Marfan Syndrome. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hall FD 3rd, Miller CN, Gerecht S, Boheler KR |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103475 |
| PubMed | 38941881 |
| DOI | 10.1016/j.scr.2024.103475 |