GM28283

GM28283 Fibroblast

Description:

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
HEAT-SHOCK 22-KD PROTEIN 8; HSPB8
RIMMED VACUOLAR MYOPATHY

Affected:

No

Sex:

Male

Age:

49 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

brother

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Unaffected brother; positive family history; affected mother (GM26097-lymph, GM26098-fibro); affected brother (GM26095-lymph, GM26096-fibro); at-risk maternal aunt (GM26100-lymph); affected maternal uncle (GM26579-fibro); LCL(GM26099)

Characterizations

PDL at Freeze

8.77

Passage Frozen

Gene

HSPB8

Chromosomal Location

12q24.23

Allelic Variant 1

p.P173Sfs*43; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

Identified Mutation

c.515dupC (p.P173Sfs*43)

Phenotypic Data

Remarks

Publications

Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V, New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy Neurology Genetics5:e349 2018

PubMed ID: 31403083