NTCC® NA05041 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05041

Name：NTCC® NA05041 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05041
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: 23 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
Remarks: Clinically affected; severely affected; repeated respiratory & gastrointestinal crises; requires hospitalization for gastrointestinal crises several times per year; severe scoliosis; classical diagnostic features; absent papillae of tongue; abnormal histamine test; 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; affected sister is GM05042; unaffected sisters are GM05043, GM05044; mother is GM05046; father is GM05045.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: IKBKAP
Disease疾病类型:
Mutations突变: c.2204+6T>C (IVS20+6T>C)
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