ID   PiZZ6-MM
AC   CVCL_D2XF
SY   PIZZ6-S3-MM2
DR   Wikidata; Q127383083
WW   Provider; CReM; 543; https://stemcellbank.bu.edu/Catalog/Item/Details/543
CC   From: Center for Regenerative Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple_corrected; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=By CRISPR/Cas9. Z allele (Boston University).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D2XE ! PiZZ6
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-04-25; Version: 5
//