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Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1
- Source :
- Stem Cell Research, Vol 54, Iss , Pp 102403- (2021)
- Publication Year :
- 2021
- Publisher :
- Elsevier, 2021.
-
Abstract
- Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555 T > C and c.3014A > T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, as well as retinal organoids.
- Subjects :
- Biology (General)
QH301-705.5
Subjects
Details
- Language :
- English
- ISSN :
- 18735061
- Volume :
- 54
- Issue :
- 102403-
- Database :
- Directory of Open Access Journals
- Journal :
- Stem Cell Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.5a6819c128a64d45bbb7e38085b0ffdf
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.scr.2021.102403