ID   GM29054
AC   CVCL_D6WH
SY   GM29054*B
DR   Coriell; GM29054
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11005; SLC2A1; Simple_corrected; p.Pro485Leu (c.1454C>T); ClinVar=VCV000871442; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM29054).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168599; GLUT1 deficiency syndrome 1
DI   ORDO; Orphanet_71277; Classic glucose transporter type 1 deficiency syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZI05 ! BIHi037-A
SX   Female
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//