NTCC® NA20216 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20216

Name：NTCC® NA20216 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20216
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 7 YR
Gender性别: 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其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SHOX
Disease疾病类型:
Mutations突变: DEL ins350AG
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net