Name：NTCC? NA22606 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA22606
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 44 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: COL3A1
Disease疾病類型:
Mutations突變: 766delA
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net