Name：NTCC? NA25204 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25204
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: 18 MO
Gender性別: 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: 176_191del16; Gly59AlafsX18 235delC; Leu79CysfsX3
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