ID   GM25336
AC   CVCL_HQ18
DR   Coriell; GM25336
DR   Wikidata; Q54853877
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Gly253Asp (c.758G>A); Zygosity=Heterozygous (Coriell=GM25336).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HQ17 ! GM25335
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//