Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations

Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations

Mutations in CAD gene, encoding a multifunctional enzyme involved in de novo pyrimidine biosynthesis, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Herein, we generated an induced pluripotent stem cell (iPSC) line from the skin fibroblasts of a five-year-old bo...

Full description

Bibliographic Details
Main Authors:	Ling Zhou, Han Xu, Ye Wu, Fang Fang
Format:	Article
Language:	English
Published:	Elsevier 2022-12-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506122002963

Similar Items

Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3′-end of SRCAP using CRISPR/Cas9
by: J. Rhode, et al.
Published: (2023-12-01)

Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations
by: Chaolong Xu, et al.
Published: (2024-04-01)

Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations
by: Huafang Jiang, et al.
Published: (2023-10-01)

Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A)
by: Liuyan Gao, et al.
Published: (2023-09-01)

Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
by: Hind AlMaghthawi, et al.
Published: (2018-06-01)

Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature
by: Lifen Duan, et al.
Published: (2024-03-01)

Generation of a human iPSC line harboring a biallelic large deletion at the INK4 locus (HMGUi001-A-5)
by: Alireza Shahryari, et al.
Published: (2020-08-01)

Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations
by: Marina Riera, et al.
Published: (2019-03-01)

Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene
by: Arcangela Iuso, et al.
Published: (2022-05-01)

Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation
by: Betül Uysal, et al.
Published: (2019-10-01)

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations
by: Liangliang Jiang, et al.
Published: (2023-12-01)

Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the ARX gene
by: Xiaohui Gong, et al.
Published: (2022-04-01)

Generation of the human erythroblast-derived iPSC line UBTi001-A
by: Afrim Avdili, et al.
Published: (2022-10-01)

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
by: Sangkyun Cho, et al.
Published: (2022-03-01)

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations
by: Jiajia Yang, et al.
Published: (2021-12-01)

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
by: Carla Sanjurjo-Soriano, et al.
Published: (2018-12-01)

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer’s disease iPSC line carrying the PSEN1 H163R mutation
by: Damián Hernández, et al.
Published: (2024-09-01)

Corrigendum: Phenotypic variability in iPSC-induced cardiomyocytes and cardiac fibroblasts carrying diverse LMNA mutations
by: Jiajia Yang, et al.
Published: (2022-08-01)

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
by: Edouard Baulier, et al.
Published: (2018-12-01)

Clinical features and genetic analysis of developmental and epileptic encephalopathy caused by biallelic variants of CACNA1B
by: Xin-you Yu, et al.
Published: (2024-06-01)

Generation of an iPSC line (TSHSUi001-A) from a patient with Peutz-Jeghers syndrome due to STK11 mutation
by: Teng Wang, et al.
Published: (2023-09-01)

Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy
by: N.M. Daya, et al.
Published: (2023-10-01)

KCNB1 Mutations in Epileptic Encephalopathy
by: J Gordon Millichap, et al.
Published: (2014-12-01)

Generation of a human induced pluripotent stem cell (iPSC, DVSi001-A) with a heterozygous mutation in KRAS (A209T)
by: Xu Wang, et al.
Published: (2024-10-01)

Generation of iPSC line (GIBHi001-A) from a patient with autism spectrum disorder
by: Shuai Li, et al.
Published: (2019-10-01)

A Patient With CAD Deficiency Responsive to Uridine and Literature Review
by: Ling Zhou, et al.
Published: (2020-02-01)

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber’s Hereditary optic Neuropathy (LHON)
by: Camille Peron, et al.
Published: (2020-10-01)

Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1
by: Kayli C. Davies, et al.
Published: (2023-04-01)

Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation
by: Nicolas Leventoux, et al.
Published: (2020-08-01)

Establishment of a human iPSC line (SUTCMi001-A) derived from a healthy donor
by: Lingyuan Min, et al.
Published: (2022-08-01)

Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants
by: Yvonne Sleiman, et al.
Published: (2024-12-01)

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene
by: You Yu, et al.
Published: (2022-04-01)

Early-Onset Epileptic Encephalopathies with STXBPl Mutations
by: J Gordon Millichap
Published: (2010-12-01)

The Biallelic Inheritance of Two Novel <i>SCN1A</i> Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam
by: Giorgia Dinoi, et al.
Published: (2024-07-01)

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations
by: Giulia Gorrieri, et al.
Published: (2024-04-01)

Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene
by: Aleksandr Khudiakov, et al.
Published: (2017-10-01)

Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene
by: Aleksandr Khudiakov, et al.
Published: (2017-10-01)

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease
by: María del Carmen Ortuño-Costela, et al.
Published: (2017-08-01)

Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12
by: Sara Romero-Vázquez, et al.
Published: (2025-03-01)

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein
by: Angela D'Anzi, et al.
Published: (2022-08-01)