ID   PiZZ100-MZ
AC   CVCL_D2XJ
SY   100-3-Cr1-MZ58
DR   Wikidata; Q127383077
WW   Provider; CReM; 519; https://stemcellbank.bu.edu/Catalog/Item/Details/519
CC   From: Center for Regenerative Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=Z allele (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple_corrected; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Z allele (Boston University).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C933 ! RC2 100 3 Cr-1
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-04-25; Version: 5
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