Name：NTCC? NA20216 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20216
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: 7 YR
Gender性別: Female
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: Clinically affected; anthropometric measurements at age 7.3 years: height = 93.5 cm, height SD score = -5.5, upper to lower segment ratio = 1.8, upper to lower segment z-score = 14.8, arm span = 72.0 cm, arm span z-score = -8.5, right tibial length z-score = -2.5, right radial length z-score = -6.5, fourth metacarpal z-score = -0.9; high arched palate; normal fingernails; no scoliosis; marked increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; early radiographic signs of Madelung wrist deformity were present; bone age was 6.8 years at chronological age of 7.3 years; donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a 2-bp insertion, ins350AG, in exon 3 of the SHOX gene causing a frameshift that truncates the predicted SHOX protein after the first 13 amino acids of the homeodomain [130X]; subject's mother had Leri-Weill dyschondrosteosis and was heterozygous for the SHOX gene deletion; subject's father had borderline short stature (height -1.6 SD) and short legs and was heterozygous for the ins350AG mutation; clinically normal 6 month old sister had neither the SHOX deletion nor the ins350AG mutation.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: SHOX
Disease疾病類型:
Mutations突變: DEL ins350AG
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