NTCC® NA22606 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22606

Name：NTCC® NA22606 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22606
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: 44 YR
Gender性别: Female
Description描述: EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1 | NEUROFIBROMATOSIS, TYPE I; NF1
Remarks: Clinically affected; also has neurofibromatosis type I; see GM22607 Fibroblast; midface hypoplasia; scarred TM right; dental crowding; micrognathia; small eyes; edema; soft skin; multiple neurofibromas; cigarette paper scarring; cafe-au-lait spots; scoliosis; kyphosis; hyperextension in shoulders, elbows, knees, and mildly in CMC joints and thumbs; pes planus; Beighton score 4/9; 3 to 5 tension migraines per week; problems hearing with background noise; pain in eyes; problems walking; constipation; slight narrowing in the supraclinoid cavernous portion of the right ICA; mild disc disease at C6-C7, posterior fossa arachnoid cyst inferiorly in C-spine; slight deformity in L1 vertebral body possibly due to previous trauma; mild disc buldge at L5-S1 with central annular tear; mild disc desiccation at L4-L5; minimal facet arthrosis at L4-S1; affected sister is GM22608; donor subject has a 1 bp deletion at nucleotide 766 of the COL3A1 gene [c.766delA]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: COL3A1
Disease疾病类型:
Mutations突变: 766delA
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