ID   CN46
AC   CVCL_JG58
DR   JCRB; JCRB1723
DR   Wikidata; Q54813869
RX   PubMed=6272292;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Unexplicit; Ex16-18del (nsv1067857); ClinVar=VCV000003711; Zygosity=Heterozygous (PubMed=6272292).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1723
ST   Amelogenin: X
ST   CSF1PO: 9,12
ST   D13S317: 11,12
ST   D16S539: 10,12
ST   D5S818: 11,13
ST   D7S820: 10,11
ST   TH01: 6,9
ST   TPOX: 11
ST   vWA: 16
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 10
//
RX   PubMed=6272292; DOI=10.1073/pnas.78.8.5151; PMCID=PMC320351;
RA   Miyake Y., Tajima S., Yamamura T., Yamamoto A.;
RT   "Homozygous familial hypercholesterolemia mutant with a defect in
RT   internalization of low density lipoprotein.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:5151-5155(1981).
//