2. Academic Validation
  3. Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation

Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation

  • Stem Cell Res. 2021 Mar:51:102157. doi: 10.1016/j.scr.2021.102157.
Jie Wen 1,  Jian Song 1,  Chufeng He 1,  Jie Ling 2,  Yalan Liu 1,  Hongsheng Chen 1,  Wei Gong 3,  Lingyun Mei 4,  Yong Feng 5
Affiliations

Affiliations

  • 1 Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • 2 Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, China; Hunan Key Laboratory of Molecular Precision Medicine, Changsha, China.
  • 3 University of South China Affiliated Changsha Central Hospital, Changsha 410004, Hunan, China.
  • 4 Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China. Electronic address: [email protected].
  • 5 Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; University of South China Affiliated Changsha Central Hospital, Changsha 410004, Hunan, China. Electronic address: [email protected].
PMID: 33454628 DOI: 10.1016/j.scr.2021.102157
Abstract

Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of a 4-year-old boy affected with WS type II, caused by a novel mutation in microphthalmia-associated transcription factor (MITF) (NM_000248.3: exon6:c.626A>T). The patient-specific iPSC line (CSUXHi003-A) carrying the same MITF mutation showed normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. It may be a useful tool for in vitro modeling of WS.

Figures
Products