Name：NTCC? NA05167 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05167
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 28 YR
Gender性別: Female
Description描述: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22
Remarks: Clinically affected; high arches of feet; difficulty with running as a teenager; marked equinus deformity of the foot with early hammer toes; marked weakness of the foot extensors; mildly reduced sensation to pin and light touch; walks with slight steppage gait; normal strength in bulk in upper extremities; normal strength of psoas, quadriceps, hamstrings, and gastrocnemius muscles; no palpably enlarged nerves noted peripherally; affected father is RB05165; EMG performed at age 28 was "compatible with a rather significant polyneuropathic process of a primary demyelinating type. The findings would be consistent with a clincial suspected diagnosis of Charcot-Marie-Tooth disease."; see GM05168 lymphocyte; 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)
Alternate IDs其他編號:
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
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(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