Abstract

The objective of the Tissue Culture Core i to provide cultured cell lines to MRRC investigators to enhance their research efforts on disorders relates to MRDD. The core is a central tissue culture facility dedicated exclusively to the MRRC for establishment, maintenance and long-term storage of skin fibroblasts and lymphoblastoid cell lines for 28 MRRC investigators. Specifically, whole blood samples are used to establish EBV-transformed B lymphoblastoid cell lines, primary fibroblasts, somatic cell hybrids and other specific cell types and common cell lines are maintained for storage or growth in large quantities for biochemical/cytogenetic analysis.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
5P30HD024064-12
Application #
6202065
Study Section
Project Start
1999-09-11
Project End
2000-09-10
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
12
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Baylor College of Medicine
Department
Type
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030

  Publications

Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
Eblimit, Aiden; Zaneveld, Smriti Agrawal; Liu, Wei et al. (2018) NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res 173:32-43
Lanzieri, Tatiana M; Chung, Winnie; Leung, Jessica et al. (2018) Hearing Trajectory in Children with Congenital Cytomegalovirus Infection. Otolaryngol Head Neck Surg 158:736-744
Madan, Simran; Kron, Bettina; Jin, Zixue et al. (2018) Arginase overexpression in neurons and its effect on traumatic brain injury. Mol Genet Metab 125:112-117
De Maio, Antonia; Yalamanchili, Hari Krishna; Adamski, Carolyn J et al. (2018) RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep 25:726-736.e7
Reeber, Stacey L; Arancillo, Marife; Sillitoe, Roy V (2018) Bergmann Glia are Patterned into Topographic Molecular Zones in the Developing and Adult Mouse Cerebellum. Cerebellum 17:392-403
Gillentine, Madelyn A; Lupo, Philip J; Stankiewicz, Pawel et al. (2018) An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet 63:795-801
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C et al. (2017) Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38:1365-1371
Machol, Keren; Jain, Mahim; Almannai, Mohammed et al. (2017) Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A 173:733-739
Gillentine, Madelyn A; Yin, Jiani; Bajic, Aleksandar et al. (2017) Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells. Am J Hum Genet 101:874-887

Showing the most recent 10 out of 709 publications