NTCC® GM09787 Cell Line细胞株-BioVector NTCC典型培养物保藏中心Coriell GM09787

Name：NTCC® GM09787 Cell Line
Category分类：LCL
Cat#货号:NTCC®-Coriell GM09787
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
Species物种来源: sapiens
Age年龄: 3 YR
Gender性别: Female
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | ASPARTOACYLASE; ASPA
Remarks: Clinically affected; modified & slower onset than typical Tay-Sachs; absent hexosaminidase A activity as judged by MUGS assay; 46,XX in peripheral blood lymphocytes; donor subject is heterozygous for a G>A splice site mutation in intron 9 of the HEXA gene: c.1073+1 G>A (IVS9+1 G>A); parents (not in repository) carry 2 different mutations; negative for familial dysautonomia (FD) and Canavan diseases.
Alternate IDs其他编号:
Cell Type细胞类型: B-Lymphocyte
Source组织来源: B-Lymphocyte
Tissue Type组织类型: Blood
Disease疾病类型:
Gene: HEXA
Mutations突变: c.1073+1 G>A (IVS9+1 G>A)
Karyotypes核型:
Cytogenetics:
Allelic Variant 1: 1
Mutation description突变描述: c.1073+1 G>A (IVS9+1 G>A); Akli et al. (1991) described a G-to-A transition of the obligatory GT sequence of the intron 9 donor splice site of the HEXA gene in a case of classic Tay-Sachs disease (272800). In a case of infantile Tay-Sachs disease in a Louisiana Cajun family, McDowell et al. (1992) found compound heterozygosity for the exon 11 insertion (606869.0001) and for a G-to-A transition at position +1 of intron 9 changing the invariant GT of the donor splice site to AT. Akerman et al. (1992) found a relatively high frequency of the IVS9 donor splice site mutation in non-Jewish Caucasians. The mutation was not identified among 12 black American TSD alleles or in any of 18 Ashkenazi Jewish, enzyme-defined carriers. This allele and the HEXA pseudodeficiency allele (606869.0035) described by Triggs-Raine et al. (1992) account for almost 50% (29/64) of TSD or carrier alleles ascertained by enzyme screening in non-Jewish Caucasians. Of 24 unrelated mutant chromosomes from 20 non-Jewish subjects (15 TSD carriers, 4 TSD patients, and 1 TSD fetus) in the British Isles, 5 had mutations common in the Ashkenazi Jewish community (606869.0001 and 606869.0002) and 10 had the intron 9 splice site mutation (Landels et al., 1992). This was an unexpected finding considering the diverse origin of the population of the British Isles. By cDNA-PCR amplification, Akli et al. (1993) found a 17-bp insertion due to the same mutation in 2 French patients with the infantile form of Tay-Sachs disease. One was a homozygote and one a compound heterozygote with a 4-bp insertion in exon 11 in the second allele. The G-to-A transition in the donor site resulted in activation of a cryptic donor site in the intron. Akli et al. (1993) found the mutation in 9 of 82 Tay-Sachs chromosomes. In the British Isles, the IVS9DS mutation was found more frequently in subjects of Irish, Scottish, and Welsh origin than in those of English origin (63% and 31%, respectively). In a blind study, Landels et al. (1993) tested 26 American TSD carriers and 28 noncarriers who had British ancestry for the IVS9DS mutation. Six of the carriers and none of the controls were positive for the mutation. All 6 had Irish ancestry compared with 9 of the 20 other IVS9DS-negative TSD carriers. These results confirmed the previously found high frequency of this specific mutation in non-Jewish TSD families of British Isles, particularly Irish, origin, and reinforced the need to screen such families for this mutation.
Origin:
Transformants: Epstein-Barr Virus
Alias别名:
Cell Images细胞图片:
Complete Growth Medium完全培养基: NTCC® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: RT/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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