ID   GM28977
AC   CVCL_D2ZY
DR   Coriell; GM28977
DR   Wikidata; Q127380946
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11233; SPAST; Simple; p.Arg499His (c.1496G>A); ClinVar=VCV000240950; Zygosity=Heterozygous (Coriell=GM28977).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129981; Spastic paraplegia 4
DI   ORDO; Orphanet_100985; Autosomal dominant spastic paraplegia type 4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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