ID   GM28283
AC   CVCL_B5LG
DR   Coriell; GM28283
DR   Wikidata; Q111733240
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:30171; HSPB8; Simple; p.Pro173Serfs*43 (c.515dupC); ClinVar=VCV000986227; Zygosity=Heterozygous (Coriell=GM28283).
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; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_LH28 ! GM26099
SX   Male
AG   49Y
CA   Finite cell line
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 8
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