NTCC® NA20466 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20466

Name：NTCC® NA20466 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20466
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: 34 YR
Gender性别: Female
Description描述: SC PHOCOMELIA SYNDROME | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
Remarks: Clinically affected; formerly AG04344; congenital cranial nerve palsies (VII and IX or X); short stature; microcephaly; broad, high forehead; beaked nose; high nasal bridge; hypoplastic mid-face (cartilage of tip and nasal alae) with anteverted nares; intact palate; short philtrum and down-turned mouth; small eyes with blepharochalasis; optic nerve pit of the right optic disc; hypoplastic scapulae, humerii, and ulnae with absent radii and metacarpals I and V; absent thumbs; two of the remaining four fingers arose from bifid IVth metacarpals; great toes were short with wide first interdigital space; absent iliac horns and hypoplastic patellae, distal tibiae and fibulae; small vertebrae; thoracic kyphoscoliosis; mild pulmonic valve stenosis; scotoma of right eye; mild mental retardation (IQ = 66); diabetes mellitus diagnosed at age 32 controlled by diet; malignant melanoma of left scapular area of upper back treated surgically only; patient died 3 years after excision of the primary tumor; autopsy revealed widely metastatic melanoma; an older sister has same features with some additional skeletal anomalies (complete fusion of short ulnae with hypoplastic humerii and absent left patella and tibiae), but with no cancer; premature separation of centromeres (PCS) of sister chromatids in leukocytes, EBV virus-transformed lymphoblasts, skin fibroblasts, and metastatic melanoma cells; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 604 in exon 3 of the ESCO2 gene [604C>T] resulting in a substitution of a termination signal for glutamine at codon 202 [Gln202Ter (Q202X)] and a second allele has a single-nucleotide deletion at nucleotide 752 in exon 3 of the ESCO2 gene [752delA] resulting in a frameshift with a truncated protein [K253fsX12]; same donor is GM20467 fibroblast.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ESCO2
Disease疾病类型:
Mutations突变: 752delA GLN202TER
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
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