NTCC® NA23630 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23630

Name：NTCC® NA23630 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23630
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: 38 YR
Gender性别: Female
Description描述: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | FUKUTIN-RELATED PROTEIN; FKRP
Remarks: Symptom onset at age range 11-15 years; cardiac involvement; brain involvement; motor functions achieved and currently maintained: hold head up without assistance, sit without assistance, walk indoors without assistance; motor function achieved but not currently maintained: turn in bed without assistance, stand without assistance, walk outdoors without assistance, climb stairs with a handrail, and run with feet leaving the ground; Fukutin related protein gene (FKRP) sequence analysis result: homozygous for c.826C>A (leucine to isoleucine) DNA variation in exon 4; subject is also homozygous for one known polymorphism: c.135C>T (alanine to alanine) in exon 4 resulting in a silent mutation; MRI or CT scan findings: cerebellar tonsils ( 6 mm below foramen magnum); borderline Chiari 1 malformation; respiratory support used greater than 12 hours a day; see GM23868 for fibroblast.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: FKRP
Disease疾病类型:
Mutations突变: 826C>A c.135C>T
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