NTCC® NA23835 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23835

Name：NTCC® NA23835 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23835
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: 9 YR
Gender性别: Male
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
Remarks: Hearing loss; failed newborn screen, but passed the repeat; Diagnosed with Attention Deficit Disorder in HeadStart program; mulitple normal hearing tests; speech delay diagnosed in kindergarten; failed hearing test with ENT; Mild to Moderate bilateral sensorineural hearing loss; used hearing aid; donor subject is a compound heterozygote: one allele has a 1 bp deletion of one guanine in a run of six guanines extending from nucleotide 30 to 35 in exon 1 of the GJB2 gene (35delG) causing a frameshift of the coding sequence leading to premature chain termination at the 12th amino acid; the second allele has a T>C transition in exon 1 resulting in a substitution of threonine for methionine at codon 34 [Met34Thr (M34T)]; Therapy includes speech language therapy.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GJB2
Disease疾病类型:
Mutations突变: 1-BP DEL, 35G MET34THR
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