ID   GM20136
AC   CVCL_9R97
DR   CLO; CLO_0027714
DR   Coriell; GM20136
DR   Wikidata; Q54850814
CC   Sequence variation: Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu257Leu (c.771G>A) (G-A,EX7); ClinVar=VCV000002761; Zygosity=Homozygous; Note=Causes skipping of exon 7 (Coriell=GM20136).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125595; Mucolipidosis type IIIA
DI   ORDO; Orphanet_423461; Mucolipidosis type III alpha/beta
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
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