Name：NTCC? NA20215 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20215
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: 65 YR
Gender性別: Male
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: Clinically affected; anthropometric measurements at age 65.3 years: height = 127.7 cm, height SD score = -7.2, upper to lower segment ratio = 1.8, upper to lower segment z-score = 30.3, arm span = 106.2 cm, arm span z-score = -9.2, right tibial length z-score = -8.0, right radial length z-score = -5.3, fourth metacarpal z-score = 0.9; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; subject's parents reportedly had short stature (both 157 cm); sister affected with Leri-Weill dyschondrosteosis; donor subject is hemizygous or homozygous for a 1-bp insertion of a C, ins723C, in exon 6a of the SHOX gene resulting in a frameshift that replaces the carboxy terminus with 50 novel amino acids; subject has no wildtype SHOX exon 6a. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid.
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: 1-BP INS, 723C
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