ID   SS23
AC   CVCL_RY76
DR   JCRB; JCRB1710
DR   Wikidata; Q54955684
RX   PubMed=3391611;
RX   PubMed=10200052;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; c.68-1G>C; ClinVar=VCV000251005; Zygosity=Homozygous; 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=JCRB1710
ST   Amelogenin: X
ST   CSF1PO: 12,13
ST   D13S317: 8,12
ST   D16S539: 10,11
ST   D5S818: 10,11
ST   D7S820: 10,11
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 14
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20Y
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
//
RX   PubMed=3391611; DOI=10.1007/BF00280546;
RA   Funahashi, Tohru
RA   Miyake, Yasuko
RA   Yamamoto, Akira
RA   Matsuzawa, Yuji
RA   Kishino, Bun-ichiro
RT   "Mutations of the low density lipoprotein receptor in Japanese
RT   kindreds with familial hypercholesterolemia.";
RL   Hum. Genet. 79:103-108(1988).
//
RX   PubMed=10200052; DOI=10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W;
RA   Maruyama, Takao
RA   Miyake, Yasuko
RA   Yamamura, Taku
RA   Tajima, Shoji
RA   Funahashi, Tohru
RA   Matsuzawa, Yuji
RA   Yamamoto, Akira
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).
//