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Cellosaurus CHP 4 (W.W.) (CVCL_2779)

Cell line name CHP 4 (W.W.)
Synonyms CHP 4; CHP #4; CHP4; GM00052; GM0052; GM052; GM-52; GM52
Accession CVCL_2779
Secondary accession CVCL_F482
Resource Identification Initiative To cite this cell line use: CHP 4 (W.W.) (RRID:CVCL_2779)
Comments Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (from autologous cell line GM02796).
  • Mutation; HGNC; 4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (from autologous cell line GM02796).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_7299 (GM00639)
Originate from same individual CVCL_F483 ! GM01908
CVCL_F484 ! GM02796
Sex of cell Male
Age at sampling 15Y
Category Finite cell line
STR profile Source(s): ATCC; ECACC; IZSLER; PubMed=11416159; PubMed=25877200

Markers:
AmelogeninX,Y
CSF1PO8,12
D2S133819,24
D3S135814,15
D5S81811,13
D7S8208,10
D8S117913
D13S31712,14
D16S53910,11
D18S5114,16
D19S43311,14
D21S1130,31
FGA23,24
Penta D10,11
Penta E7,15
TH016,9.3
TPOX11
vWA15,17

Run an STR similarity search on this cell line
Publications

PubMed=1192846; DOI=10.1159/000130519
Mellman W.J., Tedesco T.A., Greene A.E., Coriell L.L.
Galactosemia. Repository identification Nos. GM-52 and GM-53.
Cytogenet. Cell Genet. 15:198-199(1975)

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6988327; DOI=10.1007/BF02831503
O'Brien S.J., Shannon J.E., Gail M.H.
A molecular approach to the identification and individualization of human and animal cells in culture: isozyme and allozyme genetic signatures.
In Vitro 16:119-135(1980)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=11416159; DOI=10.1073/pnas.121616198
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)

PubMed=25877200; DOI=10.1038/nature14397
Yu M., Selvaraj S.K., Liang-Chu M.M.Y., Aghajani S., Busse M., Yuan J., Lee G., Peale F.V., Klijn C., Bourgon R., Kaminker J.S., Neve R.M.
A resource for cell line authentication, annotation and quality control.
Nature 520:307-311(2015)

Cross-references
Cell line collections (Providers) ATCC; CCL-133
Coriell; GM00052 - Discontinued
ECACC; 90102537
IZSLER; BS CL 17
Cell line databases/resources CLO; CLO_0002470
CLO; CLO_0002471
CLDB; cl774
CLDB; cl778
Biological sample resources BioSample; SAMN03470908
Encyclopedic resources Wikidata; Q54813258
Entry history
Entry creation04-Apr-2012
Last entry update05-Oct-2023
Version number23