NTCC® NA06102 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA06102

Name：NTCC® NA06102 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA06102
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: 26 YR
Gender性别: Female
Description描述: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Remarks: Clinically affected; diagnosed at age 2; mental retardation with IQ of 66; adenoma sebaceum over the nose and cheeks in a butterfly distribution; seizures that began about 6 months of age; numerous, variable sized areas of depigmentation over the legs, arms and back; shagreen patch in midline of upper back; forehead plaque; abnormal EEG at age 7, which showed right frontotemporal and left occipital focal abnormalities; donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 [Arg1743Gln (R1743Q)]; same donor as GM06101 lymphocyte; see GM25318 for iPSC derived from this fibroblast.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: TSC2
Disease疾病类型:
Mutations突变: ARG1743GLN
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