Name：NTCC? NA25493 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25493
Size/Quantity數(shù)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: 8 YR
Gender性別: Female
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
Remarks: Clinically affected; symptom onset at approximately age 3 or 4 years; diagnosed at age 6 years by a specialist (ENT/Audiology); bilateral sensorineural hearing loss that is severe in the lower frequencies rising to mild in the higher frequencies; history of chronic ear infections; noted issues with articulation; normal temporal bone CT; normal EKG; sequencing revealed that subject is homozygous for a c.11G>A mutation in the GJB2 gene resulting in p.Gly4Asp; subject also has a mitochondrial variant associated with non-syndromic hearing loss (mtDNA: 963T>C); normal SNP array: arr (1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aid; surgeries include: bilateral myringotomy and tube placement (BMT), tonsillectomy and adenoidectomy; Patient also has a mitochondrial variant associated with non-syndromic hearing loss: mtDNA:963T>C.
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: GLY4ASP
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(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net