GM20092 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20092 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Skin, Unspecified Cell Line
糖原储存病 II |葡萄糖苷酶、α、酸； GAA细胞株
Description描述：Clinically affected; presented with cardiomegaly and hypotonia prior to 5 months of age; muscle biopsy demonstrated intralysosomal glycogen accumulation; fibroblasts were acid alpha-glucosidase deficient; died prior to age 2 years; donor subject is a compound heterozygote: maternal allele has a C>G transversion at nucleotide 1941 in exon 14 of the GAA gene [1941C>G] resulting in a substitution of tryptophan for cysteine at codon 647 [Cys647Trp(C647W)] and the paternal allele has a de novo 13 nt deletion [del nt 1456-1468] resulting in a reading frameshift and a premature termination signal upstream of the enzyme catalytic site. Paternity was confirmed by comparison of multiple unlinked polymorphic markers. In addition two cis variants were identified in the GAA gene of the healthy father, which were also present in the patient: {[2065G>A] Glu689Lys (E689K)} and {[2238G>C] Trp746Cys (W746C)}.
Category分类：Fibroblast
ID编号:NTCC®-GM20092
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:
Gender性别:Female
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Affected State:Yes
Product:Fibroblast
Gene:GAA
Mutations突变:1456_1468del13 CYS647TRP
Ethnicity:PORTUGUESE/?
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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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