ID   CHP 4 (W.W.)
AC   CVCL_2779
AS   CVCL_F482
SY   CHP 4; CHP #4; CHP4; GM00052; GM0052; GM052; GM-52; GM52
DR   CLO; CLO_0002470
DR   CLO; CLO_0002471
DR   CLDB; cl774
DR   CLDB; cl778
DR   ATCC; CCL-133
DR   BioSample; SAMN03470908
DR   Coriell; GM00052
DR   ECACC; 90102537
DR   IZSLER; BS CL 17
DR   Wikidata; Q54813258
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1192846;
RX   PubMed=6988327;
RX   PubMed=11416159;
RX   PubMed=25877200;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (from autologous cell line GM02796).
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (from autologous cell line GM02796).
CC   Discontinued: Coriell; GM00052; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): ATCC=CCL-133; ECACC=90102537; IZSLER=BS CL 17; PubMed=11416159; PubMed=25877200
ST   Amelogenin: X,Y
ST   CSF1PO: 8,12
ST   D13S317: 12,14
ST   D16S539: 10,11
ST   D18S51: 14,16
ST   D19S433: 11,14
ST   D21S11: 30,31
ST   D2S1338: 19,24
ST   D3S1358: 14,15
ST   D5S818: 11,13
ST   D7S820: 8,10
ST   D8S1179: 13
ST   FGA: 23,24
ST   Penta D: 10,11
ST   Penta E: 7,15
ST   TH01: 6,9.3
ST   TPOX: 11
ST   vWA: 15,17
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F483 ! GM01908
OI   CVCL_F484 ! GM02796
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 02-05-24; Version: 24
//
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=1192846; DOI=10.1159/000130519;
RA   Mellman W.J., Tedesco T.A., Greene A.E., Coriell L.L.;
RT   "Galactosemia. Repository identification Nos. GM-52 and GM-53.";
RL   Cytogenet. Cell Genet. 15:198-199(1975).
//
RX   PubMed=6988327; DOI=10.1007/BF02831503;
RA   O'Brien S.J., Shannon J.E., Gail M.H.;
RT   "A molecular approach to the identification and individualization of
RT   human and animal cells in culture: isozyme and allozyme genetic
RT   signatures.";
RL   In Vitro 16:119-135(1980).
//
RX   PubMed=11416159; DOI=10.1073/pnas.121616198;
RA   Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G.,
RA   Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R.,
RA   Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.;
RT   "Short tandem repeat profiling provides an international reference
RT   standard for human cell lines.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001).
//
RX   PubMed=25877200; DOI=10.1038/nature14397;
RA   Yu M., Selvaraj S.K., Liang-Chu M.M.Y., Aghajani S., Busse M.,
RA   Yuan J., Lee G., Peale F.V., Klijn C., Bourgon R., Kaminker J.S.,
RA   Neve R.M.;
RT   "A resource for cell line authentication, annotation and quality
RT   control.";
RL   Nature 520:307-311(2015).
//