ID   Os Te
AC   CVCL_3323
SY   OI strain no. 1262; WG0518; WG518
DR   CLO; CLO_0008272
DR   ATCC; CRL-1262
DR   Wikidata; Q54936534
RX   PubMed=643622;
RX   PubMed=1054840;
RX   PubMed=2981843;
RX   PubMed=6191221;
RX   PubMed=6221880;
CC   Population: Caucasian.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C99001; Osteogenesis imperfecta type II
DI   ORDO; Orphanet_216804; Osteogenesis imperfecta type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Fetus
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 12
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RX   PubMed=643622; DOI=10.1093/nar/5.3.951; PMCID=PMC342035;
RA   Kuhnlein, Urs
RA   Lee, Betty
RA   Penhoet, Edward E.
RA   Linn, Stuart M.
RT   "Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA
RT   endonuclease species with a low apparent Km.";
RL   Nucleic Acids Res. 5:951-960(1978).
//
RX   PubMed=1054840; DOI=10.1073/pnas.72.2.586; PMCID=PMC432358;
RA   Penttinen, Risto P.K.
RA   Lichtenstein, Jack Ruben
RA   Martin, George R.
RA   McKusick, Victor Almon
RT   "Abnormal collagen metabolism in cultured cells in osteogenesis
RT   imperfecta.";
RL   Proc. Natl. Acad. Sci. U.S.A. 72:586-589(1975).
//
RX   PubMed=2981843; DOI=10.1016/S0021-9258(20)71150-6;
RA   Chu, Mon-Li
RA   Gargiulo, Victoria
RA   Williams, Charlene J.
RA   Ramirez, Francesco
RT   "Multiexon deletion in an osteogenesis imperfecta variant with
RT   increased type III collagen mRNA.";
RL   J. Biol. Chem. 260:691-694(1985).
//
RX   PubMed=6191221; DOI=10.1038/304078a0;
RA   Chu, Mon-Li
RA   Williams, Charlene J.
RA   Pepe, Gugliemina
RA   Hirsch, Jeffrey L.
RA   Prockop, Darwin Johnson
RA   Ramirez, Francesco
RT   "Internal deletion in a collagen gene in a perinatal lethal form of
RT   osteogenesis imperfecta.";
RL   Nature 304:78-80(1983).
//
RX   PubMed=6221880; DOI=10.3109/03008208309015011;
RA   Fraser, Judith
RA   Lancaster, Gerald A.
RA   Scriver, Charles Robert
RT   "Secreted collagen ratios in normal human and osteogenesis imperfecta
RT   skin fibroblasts.";
RL   Connect. Tissue Res. 11:57-67(1983).
//