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Cellosaurus PiZZ100-MZ (CVCL_D2XJ)

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Cell line name PiZZ100-MZ
Synonyms 100-3-Cr1-MZ58
Accession CVCL_D2XJ
Resource Identification Initiative To cite this cell line use: PiZZ100-MZ (RRID:CVCL_D2XJ)
Comments From: Center for Regenerative Medicine; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=Z allele (from parent cell line).
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple_corrected; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Z allele (Boston University).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C933 (RC2 100 3 Cr-1)
Sex of cell Female
Age at sampling 67Y
Category Induced pluripotent stem cell
Web pages Provider; CReM; 519; https://stemcellbank.bu.edu/Catalog/Item/Details/519
Cross-references
Encyclopedic resources Wikidata; Q127383077
Entry history
Entry creation30-Jan-2024
Last entry update10-Apr-2025
Version number5