Name：NTCC? NA10283 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA10283
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: 15 YR
Gender性別: Male
Description描述: HYPERGLYCEROLEMIA | CHROMOSOME DELETION
Remarks: Clinically affected; onset of symptoms at birth; maternal hypothyroidism and goiter in early pregnancy; lethargic infant who fed poorly and did not have social smile until 5 months of age; slow psychomotor development (crawled at 12 months, walked unassisted at 20 months, spoke a few words at 3 years of age); at 21 months of age, generalized osteoporosis was noted, as well as several silent fractures of both femurs and left tibia, and compression fractures of several low thoracic vertebral bodies; at 30 months of age a formal developmental and pediatric evaluation revealed: weight and head circumference less than 3rd percentile, height declined from 35th percentile to 3rd percentile, non-paralytic esotropia, hypertonia with brisk reflexes, developmental level between 8 and 13 months of age; evaluation at 42 months of age: small but proportionate child with pinched face, flexed, tapering fingers, thin semi-translucent skin, generalized, moderately severe spasticity (more pronounced in lower extremities) developmentally functioning at the 12-16 month level; biochemical test results: hyperglycerolemia (24-72 mg/dl); glyceroluria (378-2628 mg/dl); elevated serum creatine phosphokinase levels (238-6006 IU/L, with majority falling between 1500-3500 IU/L); glycerol kinase activity is less than 5 percent of control values (PMID:6249182); genetic test results: donor subject has a deletion of exons 72-79 in the dystrophin gene as determined by multiplex PCR (PMID 21354051); PCR and Southern Blot analysis confirm deletion with telomeric breakpoint between DXS28(C7) and DXS68(YHX39) and a centromeric breakpoint within region covered by DMD cDNA 11hc(63-1,1.05kb); family history includes: affected brother with similar symptoms (deceased at 33 months of age, sample not in repository) and maternal uncle (diagnosed with cerebral palsy, small stature, developmentally retarded, and died following a 錕絝lu-like錕?illness at age 5, sample not in repository).
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: DMD
Disease疾病類型:
Mutations突變: EX72-79DEL
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