NTCC® NA25204 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25204

Name：NTCC® NA25204 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25204
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: 18 MO
Gender性别: Female
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
Remarks: Clinically affected: bilateral sensorineural hearing loss; born at 35 weeks gestation via C-section due to preeclampsia; in NICU for 9 days where she failed her newborn hearing screen and was treated for jaundice; passed her follow up newborn hearing screen at 3 weeks; at 12 months an ABR was completed due to speech delay; Also completed at 12 months: ophthalmology exam, temporal bone MRI, temporal bone CT and EKG, all with normal results; normal motor development: walked at 12 months ; speech delay (no words at 18 months); eczema; treatments: cochlear implants; therapies: speech therapy; donor subject is a compound heterozygote for c.235delC mutation(resulting in p.Leu79CysfsX3) and c.176_191del16 mutation (resulting in p.Gly59AlafsX18) in the GJB2 gene; twin brother carries same mutations and also has bilateral sensorineural hearing loss(not in repository).
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: 176_191del16; Gly59AlafsX18 235delC; Leu79CysfsX3
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