Name：NTCC? NA26095 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA26095
Size/Quantity數(shù)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: 45 YR
Gender性別: Male
Description描述: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD | HEAT-SHOCK 22-KD PROTEIN 8; HSPB8 | RIMMED VACUOLAR MYOPATHY
Remarks: Clinically affected; diagnosed at 38 years of age by neuromuscular specialist; autosomal dominant distal myopathy; motor neuropathy; muscle weakness; rosacea; benign prostatic hyperplasia; gout; right bundle branch block; chronic right upper quadrant pain; whole exome sequencing revealed an insertion in an intron with a region of sequence variant identity on chromosome 9 between 35,060,302 and 35,066,579 (region includes VCP gene); co-segregation analysis results and confirmation by automated Sanger sequencing revealed a maternally inherited heterozygous mutation in the HSPB8 gene: c.515dupC (p.P173Sfs*43) in exon CDS 3; positive family history: this mutation is also present in the affected mother (lymph GM26097, fibro GM26098) and affected maternal uncle (fibro GM26579); heterozygous variants of uncertain significance (VUS) that are present in the proband, mother and uncle are: CCDC78 c.986T>C (p.I329T), MUSK c.43C>A (p.L15M), and TRIM32 c.1223G>A (p.R408H); heterozygous VUS present in the proband, but absent in both the mother and uncle are: MYH14 c.1607C>T (p.P536L), and TTN c.27601G>T (p.A9201S); unaffected brother (GM26099-lymph); at-risk maternal aunt (GM26100-lymph); also see fibro GM26096; pedigree and family history in PMID 31403083.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: HSPB8
Disease疾病類型:
Mutations突變: c.515dupC (p.P173Sfs*43)
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
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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(yǎng)物保藏中心
Tel電話：400-800-2947
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