ID   GM29367
AC   CVCL_F0Z3
DR   Coriell; GM29367
CC   Population: Caucasian; English/Italian/Lithuanian/Norwegian.
CC   Sequence variation: Mutation; HGNC; HGNC:11233; SPAST; Simple; c.1413+1G>A; ClinVar=VCV000805511; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM29367).
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   6Y
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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