Name：NTCC? NA07983 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA07983
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: 25 YR
Gender性別: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; microcephaly; scoliosis diagnosed at age 12; severe kyphoscoliosis at age 25; early milestones were slow; started losing skills at age 2; currently severely retarded; behavioral phenotype includes hand wringing that began at age 2 and became more intense; no sleep problems; no self-injurious behavior; abnormal EEG; CT scan at age 25 showed evidence of atrophy; donor subject carries a frameshift mutation, 705delG, in the gene encoding methyl-CpG binding protein 2 (MECP2); see GM07982 fibroblast.
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: MECP2
Disease疾病類型:
Mutations突變: 705delG
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)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