Name：NTCC? NA06077 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA06077
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 4 YR
Gender性別: Female
Description描述: DYSTROPHIA MYOTONICA 1; DM1
Remarks: Clinically affected; diagnosed shortly after birith; delivered prematurely (breech) and weighed 5 pounds 9 ounces; vigorous resuscitation required and on respirator for approximately three months after birth; hypotonia at birth; scoliosis developed at approximately 4 months of age and required body brace; by age 2 there was delay in communication skills, inability to sit without support, delayed fine motor adaptive skills, difficulty maintaining head control, delayed milestones; high-arched palate; thin, long face with moderate facial weakness; inability to completely close eyelids; thin, elongated head; hypertelorism; little facial movement; bilateral nonobligatory tonic neck responses; reduced muscle tone and reduced muscle bulk in all extremities; clinical and electrical myotonia; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1600 (minor species at 2400) in the DMPK gene; affected mother is GM04608; affected sister is GM04601; maternal grandfather is GM06075; see GM04602 fibroblast
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: DMPK
Disease疾病類型:
Mutations突變: (CTG)n EXPANSION
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