Name：NTCC? NA20212 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA20212
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 35 YR
Gender性別: Female
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: Clinically affected; anthropometric measurements at age 35.2 years: height = 122.1 cm, height SD score = -6.8, upper to lower segment ratio = 2.1, upper to lower segment z-score = 38.7, arm span = 96.3 cm, arm span z-score = -8.7, right tibial length z-score = -7.8, right radial length z-score = -7.4, fourth metacarpal z-score = -1.7; menarche at age 11; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; parents had classic Leri-Weill dyschondrosteosis; sibling, GM20213, affected with Langer mesomelic dysplasia; subject has daughter with Leri-Weill dyschondrosteosis and hypochondroplasia and a son with Leri-Weill dyschondrosteosis; donor subject is heterozygous for a complete deletion of one SHOX allele and coding region mutations in the other SHOX allele were not detected. 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(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: SHOX
Disease疾病類型:
Mutations突變: DEL
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
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