TY - JOUR

T1 - Generation of Three iPSC Lines from Fibroblasts of a Patient with Cohen Syndrome

AU - Pristyazhnyuk, I. e.

AU - Minina, J. m.

AU - Voinova, V. y.

AU - Safonova, M. p.

AU - Lagarkova, M. a.

AU - Davidenko, A. v.

AU - Volovikov, E. a.

AU - Menzorov, A. g.

N1 - Generation of Three iPSC Lines from Fibroblasts of a Patient with Cohen Syndrome / I. E. Pristyazhnyuk, J. M. Minina, V. Y. Voinova [et al.] // Russian Journal of Developmental Biology. – 2024. – Vol. 55, No. 3. – P. 153-160. – DOI 10.1134/S1062360424700139. The reported study was funded by the Ministry of Science and Higher Education of the Russian Federation (agreement no. 075-15-2021-1063/10 dated April 27, 2024).

PY - 2024/6/1

Y1 - 2024/6/1

N2 - Cohen syndrome is a rare autosomal recessive genetic disorder characterized by developmental delay, intellectual disability, microcephaly, neutropenia, dysmorphism, obesity, and ophthalmological and autistic spectrum disorders. It is caused by homozygous or compound heterozygous variants in the VPS13B gene. We produced three induced pluripotent stem cell (iPSC) lines from the fibroblasts of a Cohen syndrome patient that had VPS13B gene compound heterozygous variants with unknown clinical significance. The iPSC lines had a normal karyotype, expressed pluripotency markers, and markers of all three germ layers upon differentiation in embryoid bodies. A study of unknown variants may clarify the functions of the VPS13B gene as well as the functional roles of its domains.

AB - Cohen syndrome is a rare autosomal recessive genetic disorder characterized by developmental delay, intellectual disability, microcephaly, neutropenia, dysmorphism, obesity, and ophthalmological and autistic spectrum disorders. It is caused by homozygous or compound heterozygous variants in the VPS13B gene. We produced three induced pluripotent stem cell (iPSC) lines from the fibroblasts of a Cohen syndrome patient that had VPS13B gene compound heterozygous variants with unknown clinical significance. The iPSC lines had a normal karyotype, expressed pluripotency markers, and markers of all three germ layers upon differentiation in embryoid bodies. A study of unknown variants may clarify the functions of the VPS13B gene as well as the functional roles of its domains.

UR - https://www.elibrary.ru/item.asp?id=76807064

U2 - 10.1134/S1062360424700139

DO - 10.1134/S1062360424700139

M3 - Article

VL - 55

SP - 153

EP - 160

JO - Russian Journal of Developmental Biology

JF - Russian Journal of Developmental Biology

SN - 1062-3604

IS - 3

ER -