ID   KIK4
AC   CVCL_UZ96
DR   JCRB; JCRB1725
DR   Wikidata; Q94339450
RX   PubMed=7588706;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; c.1845+2T>C; ClinVar=VCV000252070; Zygosity=Homozygous; Note=Splice donor mutation (JCRB=JCRB1725).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): JCRB=JCRB1725
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 11
ST   D16S539: 12,13
ST   D5S818: 10,12
ST   D7S820: 10,11
ST   TH01: 6,9
ST   TPOX: 12
ST   vWA: 17,18
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=7588706; DOI=10.1111/j.1432-1033.1995.0700a.x;
RA   Maruyama T., Miyake Y., Tajima S., Funahashi T., Matsuzawa Y.,
RA   Yamamoto A.;
RT   "A single point mutation in the splice donor site of the
RT   low-density-lipoprotein-receptor gene produces intron read-through,
RT   exon-skipped and cryptic-site-utilized transcripts.";
RL   Eur. J. Biochem. 232:700-705(1995).
//