ID   GM26099
AC   CVCL_LH28
DR   Coriell; GM26099
DR   Wikidata; Q54854078
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:30171; HSPB8; Simple; p.Pro173Serfs*43 (c.515dupC); ClinVar=VCV000986227; Zygosity=Heterozygous (Coriell=GM26099).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with inclusion myopathy but possess the mutation affecting his brother, mother and uncle.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C122663; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
DI   ORDO; Orphanet_206662; Inclusion myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5LG ! GM28283
SX   Male
AG   44Y
CA   Transformed cell line
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
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