ID   GM05004
AC   CVCL_AA46
SY   GM5004
DR   CLO; CLO_0025675
DR   Coriell; GM05004
DR   Wikidata; Q54838803
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 27960; SLC6A19; Simple; p.Asp173Asn (c.517G>A); ClinVar=VCV000002019; Zygosity=Homozygous (Coriell=GM05004).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84748; Hartnup disease
DI   ORDO; Orphanet_2116; Hartnup disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   CelloPub=CLPUB00720;
RA   Greene A.E., Mulivor R.A.;
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986).
//