NTCC® NA21911 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21911

Name：NTCC® NA21911 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21911
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:
Gender性别: 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其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: MECP2
Disease疾病类型:
Mutations突变: 411delG
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