ID   STM38
AC   CVCL_RY77
DR   JCRB; JCRB1714
DR   Wikidata; Q54970599
RX   PubMed=1446662;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Asp433His (c.1297G>C); ClinVar=VCV000003732; Zygosity=Heterozygous (PubMed=1446662).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1714
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 10,11
ST   D16S539: 11
ST   D5S818: 11,12
ST   D7S820: 8,13
ST   TH01: 6,9
ST   TPOX: 8,9
ST   vWA: 14,18
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=1446662; DOI=10.1111/j.1432-1033.1992.tb17383.x;
RA   Miyake Y., Tajima S., Funahashi T., Yamamura T., Yamamoto A.;
RT   "A point mutation of low-density-lipoprotein receptor causing rapid
RT   degradation of the receptor.";
RL   Eur. J. Biochem. 210:1-7(1992).
//