ID   AK28
AC   CVCL_LC42
DR   JCRB; JCRB1726
DR   Wikidata; Q54749028
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; c.1845+2T>C; ClinVar=VCV000252070; Zygosity=Heterozygous; Note=Splice donor mutation (JCRB=JCRB1726).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): JCRB=JCRB1726
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 11,13
ST   D16S539: 12,13
ST   D5S818: 10,13
ST   D7S820: 10
ST   TH01: 6,9
ST   TPOX: 8,12
ST   vWA: 17,18
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 11
//