ID   RS53
AC   CVCL_JG59
DR   JCRB; JCRB1712
DR   Wikidata; Q54951305
RX   PubMed=10200052;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; c.68-1G>C; ClinVar=VCV000251005; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=10200052).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1712
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 12,14
ST   D16S539: 11
ST   D5S818: 10,11
ST   D7S820: 10,11
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 14
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
//
RX   PubMed=10200052; DOI=10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W;
RA   Maruyama T., Miyake Y., Yamamura T., Tajima S., Funahashi T.,
RA   Matsuzawa Y., Yamamoto A.;
RT   "A novel point mutation in a splice acceptor site of intron 1 of the
RT   human low density lipoprotein receptor gene which causes severe
RT   hypercholesterolemia: an unexpected absence of exon skipping.";
RL   Hum. Mutat. 11:480-481(1998).
//