NTCC® NA25288 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25288

Name：NTCC® NA25288 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25288
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 3 YR
Gender性别: Male
Description描述: MICROCEPHALY WITH CHORIORETINOPATHY
Remarks: Clinically affected; diagnosed at birth; congenital bilateral retinal detachments resulting in no functional vision; micrencephaly; chorioretinopathy; moderate intellectual disability; anxiety disorder; irritability; self-injurious behavior- hand-biting (emerged at 2 to 2.5 years of age); trichotillomania; exome sequencing revealed a the donor subject is homozygous for a read-through variant: c.5458T>G (p.Ter1820Gly) in the TUBGCP6 gene; this variant is predicted to incorporate 16 extra amino acids at the C-terminus of TUBGCP6 and/or may accelerate mRNA degradation via non-stop mediated decay [For more information see PMID: 22279524 Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases by Puffenberger et al.]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: TUBGCP6
Disease疾病类型:
Mutations突变: c.5458T>G
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net