ID   MN20
AC   CVCL_UF91
DR   JCRB; JCRB1722
DR   Wikidata; Q95990412
RX   PubMed=6272292;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Unexplicit; Ex16-18del (nsv1067857); ClinVar=VCV000003711; Zygosity=Homozygous (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=JCRB1722
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11,13
ST   D16S539: 10,12
ST   D5S818: 11,13
ST   D7S820: 10,11
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 16
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=6272292; DOI=10.1073/pnas.78.8.5151; PMCID=PMC320351;
RA   Miyake, Yasuko
RA   Tajima, Shoji
RA   Yamamura, Taku
RA   Yamamoto, Akira
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).
//