ID   YS2
AC   CVCL_LC45
DR   JCRB; JCRB1727
DR   Wikidata; Q54995517
RX   PubMed=3391611;
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=JCRB1727).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1727
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 9
ST   D16S539: 9,11
ST   D5S818: 11,13
ST   D7S820: 10,12
ST   TH01: 7
ST   TPOX: 8,9
ST   vWA: 18
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 12
//
RX   PubMed=3391611; DOI=10.1007/BF00280546;
RA   Funahashi T., Miyake Y., Yamamoto A., Matsuzawa Y., Kishino B.-i.;
RT   "Mutations of the low density lipoprotein receptor in Japanese
RT   kindreds with familial hypercholesterolemia.";
RL   Hum. Genet. 79:103-108(1988).
//