Name：NTCC? NA21911 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21911
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:
Gender性別: Female
Description描述: RETT SYNDROME; RTT | INCONTINENTIA PIGMENTI; IP | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected with incomplete features of Rett syndrome; at birth her right leg had faint red papules that extended from groin to calf; papules were replaced by hyperpigmentation at age 1 month; lesion biopsy at age 3 years revealed prominent spongiosis and cytoid bodies in the dermis together with superficial perivascular infiltrate, prominent pigment incontinence and abundant eosinophils; histopathology was consistent with diagnosis of incontinentia pigmenti; regression of speech occurred at age 2 months; she gradually lost learned hand skills and developed frequent hand-washing movements; autistic features with gaze avoidance and bruxism; hypotonia; donor subject has a 1 bp deletion at nucleotide 411 in exon 3 of the MECP2 gene (411delG) resulting in a premature stop codon [Leu168Ter (L138X)]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: MECP2
Disease疾病類型:
Mutations突變: 411delG
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