ID   KCMC-2060
AC   CVCL_A9J6
DR   JCRB; NIHS1042
DR   Wikidata; Q102114413
CC   Sequence variation: Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg239Cys (c.729C>T); ClinVar=VCV000016167; Zygosity=Unspecified (JCRB=NIHS1042).
CC   Discontinued: JCRB; NIHS1042; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84545; Alexander disease
DI   ORDO; Orphanet_58; Alexander disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
//