ID   YSS37
AC   CVCL_RY61
DR   JCRB; JCRB1730
DR   Wikidata; Q54995526
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; c.1845+2T>C; ClinVar=VCV000252070; Zygosity=Heterozygous; Note=Splice donor mutation (JCRB=JCRB1730).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1730
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 9,12
ST   D16S539: 11
ST   D5S818: 9,13
ST   D7S820: 10,13
ST   TH01: 7,9
ST   TPOX: 9,11
ST   vWA: 14,18
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 02-05-24; Version: 9
//