Name：NTCC? NA20214 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20214
Size/Quantity數(shù)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: 84 YR
Gender性別: Female
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: Clinically affected; anthropometric measurements at age 84.9 years: height = 130 cm, height SD score = -5.5, upper to lower segment ratio = 1.3, upper to lower segment z-score = 13.7, arm span = 105.3 cm, arm span z-score = -7.9, right tibial length z-score = -5.7, right radial length z-score = -6.3, fourth metacarpal z-score = -2.3; menarche at age 13 years; high arched palate; normal fingernails; no scoliosis; marked increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 457 in exon 3 of the SHOX gene [457C>T] resulting in a substitution of cysteine for arginine at codon 153 [Arg153Cys (R153C)] and a second allele has a G>T transversion at nucleotide 487 in exon 4 of the SHOX gene [487G>T] resulting in a substitution of phenylalanine for valine at codon 163 [Val163Phe (V163F)]; subject's mother reportedly had short stature (152 cm) and short arms and father reportedly had normal stature (178 cm) and short arms.
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: ARG153CYS VAL163PHE
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(zhì)粒載體菌株細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
Email：Biovector@163.com
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