Name：NTCC? NA25516 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25516
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 34 YR
Gender性別: Male
Description描述: CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1
Remarks: Clinically affected; symptom onset before age 2; complications with delivery resulted in emergency C-section; at birth: hypotonic, external opthalmoplegia, bilateral cephalohematomas, pre-retinal hemorrhage in the left eye, feeding difficulties; at 6 months, noted absent tendon reflexes; motor functions achieved and maintained: holding head up, sitting, and walking without assistance; maximum motor function achieved: climbing stairs with handrail; on the RYR1 gene, donor is compound heterozygous for c.6721C>T(p.Arg2241*, pathogenic, paternally inherited), c.325C>T(p.Arg109Trp, likely pathogenic, maternally inherited), c.2122G>A(p.Asp708Asn, VUS, paternally inherited), and c.1453A>G(p.Met485Val, VUS, maternally inherited); family history: affected brother is GM23796 (lymph); unaffected family members: mother GM23798 (lymph), brother GM23799(lymph), and brother GM23797 (lymph); same subject lymphoblast is GM23800.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: RYR1
Disease疾病類型:
Mutations突變: ARG109TRP ARG2241*
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
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