Biblio
CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK. Cell Death Dis. 2024;15(2):121.
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Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome. Stem Cell Res. 2021;51:102171.
. Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene. Stem Cell Res. 2021;51:102160.
. Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene. Stem Cell Res. 2021;53:102331.
. Generation of an induced pluripotent stem cell line SDUBMSi005-A from a patient with double primary gastric and colon carcinoma. Stem Cell Res. 2021;53:102253.
. Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome. Stem Cell Res. 2021;53:102343.
. Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene. Stem Cell Res. 2020;43:101709.
. . Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene. Stem Cell Res. 2019;40:101565.
. Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1. Stem Cell Res. 2019;39:101505.
Generation of two induced pluripotent stem cell lines from patients with unbalanced translocation (3;22). Stem Cell Res. 2019;40:101545.
. An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene. Stem Cell Res. 2019;40:101579.
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