Biblio
Establishment of a human induced pluripotent stem cell line(SDQLCHi059-A)from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene. Stem Cell Res. 2024;77:103381.
. Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H). Stem Cell Res. 2024;77:103392.
. Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene. Stem Cell Res. 2024;77:103385.
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Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene. Stem Cell Res. 2021;51:102162.
. 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.
. . . Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25. Stem Cell Res. 2020;51:102147.
. . . 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 an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene. Stem Cell Res. 2019;40:101557.
. 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.
An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene. Stem Cell Res. 2019;41:101635.
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