Animal and human cell lines, particulariy those derived from patients, are crucial for isolating large quantities of genomic DNA and RNA, and for preparing protein extracts for Western blotting studies as well as enzyme analysis. Genomic DNA can be prepared from lymphocytes isolated from whole blood. However, the availability of immortalized B-lymphoblasts or primary skin fibroblasts from the patient is particularly advantageous for several reasons. Cell lines provide a reliable means of securing additional DNA when necessary without disturbing the patient and family members in additional venipunctures. It is also a safeguard, especially in the case of morbid (fatal) disease, to ensure DNA, RNA and protein sources for pathogenesis studies and for repeated analysis when new information and technology become available. In addition, cell lines are used for electroporation and viral infections in studies involving transient and long term expression. Lastly, fibroblasts from patients with IDD are likely to prove valuable in the future for induction into pluripotent mechanistic studies and potentially for screening for therapeutics.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
5P30HD024064-25
Application #
8508983
Study Section
Special Emphasis Panel (ZHD1-MRG-C)
Project Start
Project End
Budget Start
2013-07-01
Budget End
2014-06-30
Support Year
25
Fiscal Year
2013
Total Cost
$120,924
Indirect Cost
$42,146
Name
Baylor College of Medicine
Department
Type
DUNS #
051113330
City
Houston
State
TX
Country
United States
Zip Code
77030
Itami, Chiaki; Huang, Jui-Yen; Yamasaki, Miwako et al. (2016) Developmental Switch in Spike Timing-Dependent Plasticity and Cannabinoid-Dependent Reorganization of the Thalamocortical Projection in the Barrel Cortex. J Neurosci 36:7039-54
Herrera, José A; Ward, Christopher S; Wehrens, Xander H T et al. (2016) Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis. Hum Mol Genet :
Machol, Keren; Jain, Mahim; Almannai, Mohammed et al. (2016) Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A :
Grafe, Ingo; Alexander, Stefanie; Yang, Tao et al. (2016) Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta. J Bone Miner Res 31:1030-40
Ure, Kerstin; Lu, Hui; Wang, Wei et al. (2016) Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife 5:
Radtke-Schuller, Susanne; Schuller, Gerd; Angenstein, Frank et al. (2016) Brain atlas of the Mongolian gerbil (Meriones unguiculatus) in CT/MRI-aided stereotaxic coordinates. Brain Struct Funct 221 Suppl 1:1-272
Fountain, Michael D; Aten, Emmelien; Cho, Megan T et al. (2016) The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med :
Patil, Vinit V; Guzman, Miguel; Carter, Angela N et al. (2016) Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia. Neuropathology 36:146-56
White, Janson; Beck, Christine R; Harel, Tamar et al. (2016) POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8:3
Rajagopal, Abbhirami; Homan, Erica P; Joeng, Kyu Sang et al. (2016) Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice. Mol Genet Metab 117:378-82

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