NTCC® NA04648 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA04648

Name：NTCC® NA04648 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04648
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: 23 YR
Gender性别: Male
Description描述: DYSTROPHIA MYOTONICA 1; DM1
Remarks: Clinically affected; diagnosed at age 22; bilateral cataracts; frontal baldness; bilateral ptosis; limitation of full lid closure; myotonic ocular response; facial diparesis; diminished phonation amplitude; weakness of intrinsic muscles of the face; myotonic lingual response; loss of muscle bulk to the hands; depressed deep tendon reflexes; myotonia evident with hand grip and after thenar percussion; weakness to the extensors and flexors of the wrist and to the intrinsic muscles of the hands; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1000 (minor species at ~700-800) in the DMPK gene; affected father is GM04573; affected grandfather is GM05142; affected paternal aunt is GM05281; see GM04647 fibroblast
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: DMPK
Disease疾病类型:
Mutations突变: (CTG)n EXPANSION
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