Name：NTCC? NA05149 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05149
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: 19 YR
Gender性別: Male
Description描述: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22
Remarks: Clinically affected; hypertrophic neuropathy; palpable nerves in neck and elbow; high arch of feet; moderate loss of intrinsic foot muscles; hammer toe deformities; moderate weakness of all ankle related musculature; atrophy and weakness distally; decreased sensation; affected family members inlcude 2 siblings, mother, 6 maternal aunts and uncles, and maternal grandfather; affected mother is GM05147; muscle biopsy demonstrated neuropathy; donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA; no mutations were found in the MPZ gene; donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383); same subject as GM28252 (iPSC) and GM05148 (fibroblast)
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: PMP22
Disease疾病類型:
Mutations突變: DUP (17p)
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