ID   GM04268
AC   CVCL_0P45
SY   CD#68
DR   CLO; CLO_0019596
DR   Coriell; GM04268
DR   Wikidata; Q54838457
RX   CelloPub=CLPUB00447;
RX   PubMed=19815695;
RX   PubMed=33304759;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Glu285Ala (c.854A>C); ClinVar=VCV000002605; Zygosity=Homozygous (PubMed=19815695; PubMed=33304759).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=33304759
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 11,12
ST   D16S539: 10,13
ST   D21S11: 29,31.2
ST   D5S818: 10,12
ST   D7S820: 9,12
ST   TH01: 9,9.3
ST   TPOX: 9,11
ST   vWA: 17,18
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 13
//
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   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).
//