NTCC® NA09826 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA09826

Name：NTCC® NA09826 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09826
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: 34 YR
Gender性别: Male
Description描述: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | ASPARTOACYLASE; ASPA
Remarks: Clinically affected; recurrent respiratory infections; pneumonia; blue lips; no nailbed clubbing; gastroesophageal reflux; seizures; syncopal episodes; errors in joint position in both feet; decreased vibratory sense; vomiting following vigorous coughing; postural hypotension; suggestions of poor peripheral circulation; alacrima; no acute corneal problems; optic atrophy; severe myopia; color blindness; stable BUN and creatinine; kyphoscoliosis; affected brothers are GM02341, GM02342; unaffected siblings are GM09827, and GM09828; mother is GM09829; father is GM09830; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T [Tyr231Tyr (Y231Y)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ASPA IKBKAP
Disease疾病类型:
Mutations突变: c.2204+6T>C (IVS20+6T>C) TYR231TYR
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