ID   GM28249
AC   CVCL_B0IF
SY   GM28249*B
DR   Coriell; GM28249
DR   Wikidata; Q108820320
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000126510; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0P14 ! GM00059
SX   Female
AG   1Y5M
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
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