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Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18
- Source :
- Stem Cell Research, Vol 49, Iss, Pp 102076-(2020)
- Publication Year :
- 2020
- Publisher :
- Elsevier, 2020.
-
Abstract
- Ring chromosome 18 is a rare chromosomal disorders that usually originate de novo and correlate with clinical manifestation: developmental delay as well as microcephaly, brain and ocular malformations, hypotonia and skeletal abnormalities. We generate iPSC clonal cell line ICGi024-A with pluripotency properties which were demonstrated in vitro by three germ layer differentiation capacity. ICGi024-A can be used for disease modeling and fundamental investigation of ring chromosome instability.
- Subjects :
- 0301 basic medicine
Microcephaly
Ring chromosome
Induced Pluripotent Stem Cells
Human skin
Clinical manifestation
Germ layer
Biology
Cell Line
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Ring Chromosomes
lcsh:QH301-705.5
Cell Biology
General Medicine
Fibroblasts
medicine.disease
Hypotonia
Cell biology
030104 developmental biology
lcsh:Biology (General)
Cell culture
medicine.symptom
Chromosomes, Human, Pair 18
Ipsc line
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- Language :
- English
- ISSN :
- 18735061
- Volume :
- 49
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....51610e04eb18c9583fd7ea328f63b865