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; 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: 19-12-24; Version: 14
CH   CVCL_A5RM ! CD#68 iPSC
//
RX   PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977;
RA   Feng, Li-Zhao
RA   Chao, Jian-Fei
RA   Tian, E.
RA   Li, Li
RA   Ye, Peng
RA   Zhang, Mi
RA   Chen, Xian-Wei
RA   Cui, Qi
RA   Sun, Gui-Hua
RA   Zhou, Tao
RA   Felix, Gerardo
RA   Qin, Yue
RA   Li, Wen-Dong
RA   Meza, Edward David
RA   Klein, Jeremy
RA   Ghoda, Lucy Y.
RA   Hu, Wei-Dong
RA   Luo, Yong-Lun
RA   Dang, Wei
RA   Hsu, David
RA   Gold, Joseph D.
RA   Goldman, Steven A.
RA   Matalon, Reuben Karl
RA   Shi, Yan-Hong
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).
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751;
RA   Kalman, Lisa V.
RA   Wilson, Jean Amos
RA   Buller-Burckle, Arlene M.
RA   Dixon, John
RA   Edelmann, Lisa J.
RA   Geller, Louis
RA   Highsmith, William Edward Jr.
RA   Holtegaard, Leonard M.
RA   Kornreich, Ruth
RA   Rohlfs, Elizabeth M.
RA   Payeur, Toby L.
RA   Sellers, Tina
RA   Toji, Lorraine Hellenga
RA   Muralidharan, Kasinathan
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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//