GM27226 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27226 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2 Cell Line
Ia 型先天性糖基化障碍 |磷酸甘露聚糖酶2； PMM2细胞株
Description描述：Cells are fibroblasts obtained through skin biopsy; Cells derived from a one-year old male patient, currently 5 years old; Patient is diagnosed by geneticist with PMM2-Congenital Disorder of Glycosylation Type Ia; Patient is compound heterozygous for two mutations in the PMM2 gene: PMM2, c.422G>A (p.Arg141His), Exon5, heterozygous, paternally-inherited, and PMM2 c.647A>T (p.Asn216Ile), Exon8, heterozygous, maternally-inherited; Chromosomal microarray is normal; Patient symptoms include: global developmental delay, oculomotor apraxia, cerebellar hypoplasia, feeding difficulties, abnormal coagulation, muscle weakness, ataxia, strabismus, growth hormone deficiency, cerebellar hypoplasia, eczema, hypothyroidism, iron deficiency, transaminitis, weekly episodes of epistaxis, mild myopia; Treatment includes: physical therapy, occupational therapy, speech language therapy, Levothyroxine, Synthroid, Ensure supplements, and Strabismus surgery; Management includes: prescriptive corrective lenses, wheelchair; Father is GM27389 (fibroblast); Mother is GM27390 (fibroblast).
Category分类：Fibroblast
ID编号:NTCC®-GM27226
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: Other
Age年龄:1 YR
Gender性别:Male
Cell Type细胞类型: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2
Affected State:Yes
Product:Fibroblast
Gene:PMM2
Mutations突变:ARG141HIS ASN216ILE
Ethnicity:Armenian
Family:3434
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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