ID   GM00059
AC   CVCL_0P14
SY   GM-59; GM00059A; CD#59
DR   CLO; CLO_0025162
DR   Coriell; GM00059
DR   Wikidata; Q54836009
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=19815695;
RX   PubMed=33304759;
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (PubMed=19815695; PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000126510; Zygosity=Homozygous (Coriell=GM00059).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=33304759
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D21S11: 30,31.2
ST   D5S818: 10,12
ST   D7S820: 9,11
ST   TH01: 9.3
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y5M
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 16
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050;
RA   Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J.,
RA   Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M.,
RA   Payeur T.L., Sellers T., Toji L.H., Muralidharan K.;
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//
RX   PubMed=33304759; DOI=10.1002/advs.202002155;
RA   Feng L.-Z., Chao J.-F., Tian E., Li L., Ye P., Zhang M., Chen X.-W.,
RA   Cui Q., Sun G.-H., Zhou T., Felix G., Qin Y., Li W.-D., Meza E.D.,
RA   Klein J., Ghoda L.Y., Hu W.-D., Luo Y.-L., Dang W., Hsu D., Gold J.D.,
RA   Goldman S.A., Matalon R., Shi Y.-H.;
RT   "Cell-based therapy for Canavan disease using human iPSC-derived NPCs
RT   and OPCs.";
RL   Adv. Sci. (Weinh.) 7:2002155.1-2002155.19(2020).
//