Abstract:
:Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and till date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease modelling has become the next generation tool for studying various human pathologies. In the present study we established three SCA12 patient specific iPSC lines. All the generated lines have shown pluripotency markers, normal karyotype, in-vitro three germ layers differentiation potential, vector clearance, SCA12 mutation, parental genomic identity and contamination free culture.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Kumar D,Hussain A,Srivastava AK,Mukerji M,Mukherjee O,Faruq Mdoi
10.1016/j.scr.2018.08.008subject
Has Abstractpub_date
2018-08-01 00:00:00pages
216-221eissn
1873-5061issn
1876-7753pii
S1873-5061(18)30200-9journal_volume
31pub_type
杂志文章abstract::Parental origin-dependent expression of the imprinted genes is essential for mammalian development. Zfp57 maintains genomic imprinting in mouse embryos and ES cells. To examine the allelic expression patterns of the imprinted genes in ES cells, we obtained multiple hybrid ES clones that were directly derived from the ...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2016.01.017
更新日期:2016-03-01 00:00:00
abstract::Autism is a heterogeneous neurodevelopmental disorder defined by deficits in socialization, communication, and patterns of behavior. Using stem cells to model brain disordersmay yield new understanding about the underlying neuropathological processes and could prove essential for drug development. We present here a ne...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2020.102038
更新日期:2020-12-01 00:00:00
abstract::Both BMP and Wnt signaling control stem cells in bulge/dermal papilla, intestinal crypt, and bone marrow. To explore their roles in the limbal niche, which govern corneal epithelial homeostasis, we established an in vitro model of sphere growth by reunion between single limbal epithelial progenitor cells (LEPCs) and a...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2014.01.003
更新日期:2014-03-01 00:00:00
abstract::Human lymphoblast cells from a female and male patient diagnosed with Alzheimer's disease (AD) with different genotypes of a functional copy number variation (CNV) in the AD risk gene CR1 were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NA...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2016.10.003
更新日期:2016-11-01 00:00:00
abstract::The human embryonic stem cell line RCe011-A (RC-7) was derived from a failed to fertilise oocyte voluntarily donated as unsuitable and surplus to fertility requirements following ethics committee approved informed consent under licence from the UK Human Fertilisation and Embryology Authority. The cell line shows norma...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2016.02.036
更新日期:2016-03-01 00:00:00
abstract::The human embryonic stem cell line RCe019-A (RC-15) was derived under quality assured compliance with UK regulation, European Union Directives and International guidance for tissue procurement, processing and storage according to Good Manufacturing Practice (GMP) standards. The cell line was derived from a cleavage st...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2016.04.003
更新日期:2016-05-01 00:00:00
abstract::Frontotemporal dementia with parkinsonism linked to chromosome 17q21.2 (FTDP-17) is an autosomal-dominant neurodegenerative disorder. Mutations in the MAPT (microtubule-associated protein tau) gene can cause FTDP-17, but the underlying pathomechanisms of the disease are still unknown. Induced pluripotent stem cells (i...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2016.09.024
更新日期:2016-11-01 00:00:00
abstract::Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line c...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2017.12.009
更新日期:2018-03-01 00:00:00
abstract::Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib ...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2019.101579
更新日期:2019-10-01 00:00:00
abstract::Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of t...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2018.09.015
更新日期:2018-12-01 00:00:00
abstract::We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using f...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2018.04.003
更新日期:2018-05-01 00:00:00
abstract::Measurement of Alkaline Phosphatase (ALP) level is a widely used procedure in clinical and basic research. We present a simple and inexpensive luminescence-based method that allows multiplexed measurement and normalization of intracellular ALP levels in one sample well. The method comprises two commercially available ...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2017.07.014
更新日期:2017-08-01 00:00:00
abstract::Fanconi anemia is a genetic bone marrow failure syndrome. The current treatment options are suboptimal and do not prevent the eventual onset of aplastic anemia requiring bone marrow transplantation. We previously showed that resveratrol, an antioxidant and an activator of the protein deacetylase Sirt1, enhanced hemato...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2015.05.007
更新日期:2015-07-01 00:00:00
abstract::The KCL037 human embryonic stem cell line was derived from a normal healthy blastocyst donated for research. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment and under ...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2015.12.023
更新日期:2016-01-01 00:00:00
abstract::SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chin...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2019.101524
更新日期:2019-10-01 00:00:00
abstract::Two distinct types of embryonic pluripotent stem cells can be established from either the inner cell mass (ICM) of preimplantation blastocyst (leukemia inhibitory factor (LIF)-dependent embryonic stem cell, ESC, called naive state) or the epiblast of postimplantation fetuses (fibroblast growth factor 2 (FGF2)-dependen...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2014.04.012
更新日期:2014-07-01 00:00:00
abstract::Interactions between acute myeloid leukemia (AML) blasts and neighboring stromal cells are important for disease development and chemosensitivity. However, the molecular mechanisms involved in the cytokine-mediated crosstalk between mesenchymal stem cells (MSCs) and AML cells are largely unknown. Leukemic cells derive...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2015.09.008
更新日期:2015-11-01 00:00:00
abstract::FOS is component of the AP-1 complex and has been reported to be involved in many cellular functions, including cell proliferation, differentiation, survival, angiogenesis, hematopoiesis and cancer progress. To further understand the exact role of FOS in these processes, here we created two FOS knockout human embryoni...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2019.101479
更新日期:2019-08-01 00:00:00
abstract::Bone marrow stromal cell (BMSC) adhesion and migration are fundamental to a number of pathophysiologic processes, including fracture and wound healing. Vitamin C is beneficial for bone formation, fracture repair and wound healing. However, the role of the vitamin C transporter in BMSC adhesion, migration and wound hea...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2013.11.002
更新日期:2014-03-01 00:00:00
abstract::The aim of this study was to determine whether the growth and differentiation of limbal epithelial stem cell cultures could be controlled through manipulation of the oxygen tension. Limbal epithelial cells were isolated from corneoscleral disks, and cultured using either feeder cells in a growth medium supplemented wi...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2013.01.004
更新日期:2013-05-01 00:00:00
abstract::Derivation of induced pluripotent stem (iPS) cells is mainly an epigenetic reprogramming process. It is still quite controversial how genomic imprinting is reprogrammed in iPS cells. Thus, we derived multiple iPS clones from genetically identical mouse somatic cells. We found that parentally inherited imprint was vari...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2013.05.011
更新日期:2013-09-01 00:00:00
abstract::The cancer stem cell model postulates that tumors are hierarchically organized with a minor population, the cancer stem cells, exhibiting unlimited proliferative potential. These cells give rise to the bulk of tumor cells, which retain a limited ability to divide. Without successful targeting of cancer stem cells, tum...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2017.11.009
更新日期:2018-01-01 00:00:00
abstract::The future application of human embryonic stem cells (hESC) for therapeutic approaches requires the development of xeno-free culture conditions to prevent the potential transmission of animal pathogens or xenobiotic substances to hESC. An important component of the majority of hESC culture systems developed is the req...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2010.08.002
更新日期:2011-01-01 00:00:00
abstract::Generating human podocytes in vitro could offer a unique opportunity to study human diseases. Here, we describe a simple and efficient protocol for obtaining functional podocytes in vitro from human induced pluripotent stem cells. Cells were exposed to a three-step protocol, which induced their differentiation into in...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2016.06.001
更新日期:2016-07-01 00:00:00
abstract::Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, was generated from p...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2020.101907
更新日期:2020-07-05 00:00:00
abstract::Rabbit induced pluripotent stem cells (rbiPSCs) possess the characteristic features of primed pluripotency as defined in rodents and primates. In the present study, we reprogrammed rbiPSCs using human Krüppel-like factors (KLFs) 2 and 4 and cultured them in a medium supplemented with fetal calf serum and leukemia inhi...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2017.09.001
更新日期:2017-10-01 00:00:00
abstract::Pathological myopia (PM) is a retinal degenerative disease with an increasing prevalence in Asia. The peripheral blood mononuclear cells (PBMCs) from a patient with PM were successfully reprogrammed to induced pluripotent stem cells (iPSCs) using integration-free method, Sendai viral (SeV) vectors expressing OCT4, SOX...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2018.101369
更新日期:2019-01-01 00:00:00
abstract::We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype. PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was ...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2019.101510
更新日期:2019-08-01 00:00:00
abstract::X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene. A human-induced pluripotent s...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2020.101833
更新日期:2020-05-01 00:00:00
abstract::Liver cirrhosis accompanied with hepatic encephalopathy commonly causes cognitive impairment in patients. To model this disease, two independent patient specific induced pluripotent stem cell-line (iPSC) clones, NCCSi011-A and NCCSi011-B were generated by reprogramming the CD4+ T cells of an Indian male patient suffer...
journal_title:Stem cell research
pub_type: 杂志文章
doi:10.1016/j.scr.2020.101992
更新日期:2020-10-01 00:00:00