ID   CREM062i-BT2
AC   CVCL_YY27
SY   BT2-1; BT2
DR   WiCell; crem062i-bt2
DR   Wikidata; Q98125712
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/656
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.92+6T>C (IVS1,T>C,+6) (IVS I-6 T>C); ClinVar=VCV000015450; Zygosity=Heterozygous (WiCell=crem062i-bt2).
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Gln40Ter (c.118C>T) (Q39*); ClinVar=VCV000015402; Zygosity=Heterozygous (WiCell=crem062i-bt2).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): Boston_University
ST   Amelogenin: X,Y
ST   CSF1PO: 10
ST   D13S317: 10,12
ST   D16S539: 12,13
ST   D18S51: 15,18
ST   D21S11: 29
ST   D3S1358: 17,18
ST   D5S818: 9,11
ST   D7S820: 9,10
ST   D8S1179: 14,15
ST   FGA: 21,22
ST   Penta D: 9,16
ST   Penta E: 11,14
ST   TH01: 6,8
ST   TPOX: 10,11
ST   vWA: 15,17
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 30-01-24; Version: 9
//