GM20466 ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20466 ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2 B-Lymphocyte Cell Line
罗伯茨综合症；苏格兰皇家银行 |内聚力 1、S. Cervisiae、2 的同源物的建立；爱斯科2细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20466
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:34 YR
Gender性别:Female
Cell Type细胞类型: ROBERTS SYNDROME; RBS | ESTABLISHMENT OF COHESION 1, S. CERVISIAE, HOMOLOG OF, 2; ESCO2
Affected State:Yes
Product:LCL
Gene:ESCO2
Mutations突变:752delA GLN202TER
Ethnicity:
Family:710
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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