Name：NTCC? NA23835 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23835
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 9 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: GJB2
Disease疾病類型:
Mutations突變: 1-BP DEL, 35G MET34THR
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net