NTCC® GM06807 Cell Line细胞株-BioVector NTCC典型培养物保藏中心Coriell GM06807

Name：NTCC® GM06807 Cell Line
Category分类：LCL
Cat#货号:NTCC®-Coriell GM06807
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:
Gender性别: Male
Description描述: KRABBE DISEASE
Remarks: Clinically normal; heterozygote level of lactosylceramide B-galactosidase activity in WBC; see GM06810 Fibroblast; donor subject is heterozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb
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: GALC
Mutations突变: 30-KB DEL, IVS10
Karyotypes核型:
Cytogenetics:
Allelic Variant 1: 1
Mutation description突变描述: 30-KB DEL, IVS10; Rafi et al. (1995) stated that although most patients with globoid cell leukodystrophy have the severe infantile form, patients up to 50 years of age have been diagnosed in their laboratory. They reported that a large deletion, together with a polymorphic C-to-T transition at position 502 of the cDNA (counting from the A of the initiation codon), was responsible for a large number of disease-causing alleles in patients with Krabbe disease. Of 48 patients evaluated, 10 were found to be homozygous for the 502/del allele, 5 were heterozygous for this allele, 21 were heterozygous for the 502 mutation (presence of the deletion could not be confirmed), and 1 infantile patient was homozygous for the 502 mutation but at least 1 allele was not deleted. No patient was found to have the deletion without the 502 mutation. The deletion of the entire coding region located beyond exon 10 was first detected by failure to PCR amplify any cDNA sequences from that part of the gene. Intron 10 is the largest intron in the GALC gene and is estimated to be about 12 kb in length. In the patients with deletions, PCR amplification was successful for detecting only about 5 kb into intron 10. The large deletions starting within intron 10 result in the loss of coding information from 7 exons which represent about 15% of the 50-kD subunit and all of the 30-kD subunit. Normally, these 2 subunits are produced from the 80-kD precursor protein (Chen and Wenger, 1993). The occurrence of the deletion on the 502 allele and not on the normal allele indicates that the deletion event may have happened only once. The large deletion occurred particularly in patients with infantile Krabbe disease who have northern European ancestry; however, 1 homozygous patient had a Hispanic surname. Since more people have the 502 mutation and are carriers of classic Krabbe disease, it must be a polymorphism. However, the change from arginine to cysteine could result in improper folding of the GALC subunits due to abnormal disulfide bond formation. In a study of 64 unrelated patients with infantile Krabbe disease of Dutch (n = 41) or other European (n = 23) origin, Kleijer et al. (1997) found the large 30-kb deletion starting in intron 10 in 52% of the 82 GALC Dutch alleles and in 35% of the non-Dutch alleles. The 502T polymorphism, which had an allele frequency of 5.3% in a Dutch control panel, occurred in 65% of the GLD alleles. Analysis of patients and both parents in 26 of the Dutch families showed that the 30-kb deletion was invariably associated with 502T. However, 502T was also present on 40% of the GLD alleles with an as yet unidentified mutation, which is 7.5 times higher than its frequency in controls. This suggested that in addition to the 30-kb deletion, at least 1 other relatively frequent mutation had arisen on the the 502T GALC allele. See also 245200.0007.
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:
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NTCC典型培养物保藏中心
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