Biblio
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.
. 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 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.
. 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 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.
. . . Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion. Stem Cell Res. 2024;77:103389.
. 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 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.
. Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene. Stem Cell Res. 2023;71:103132.
. 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 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 iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation. Stem Cell Res. 2023;74:103287.
. 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.
. An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene. Stem Cell Res. 2019;41:101585.
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